324 Matching Annotations
  1. Oct 2026
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Total Extraction as a Treatment for Anaemia in a Patient of Glanzmann’s Thrombasthenia with Chronic Gingival Bleed: Case Report
    1
    1. ClingenBaseline 23 Oct 2026
      Total Extraction as a Treatment for Anaemia in a Patient of Glanzmann’s Thrombasthenia with Chronic Gingival Bleed: Case Report

      PMID: 26894187

      Gene: ITGA2B and/or ITGB3 (Article does not explicitly state these genes; however, patient has Glanzmann thrombasthenia so these two genes are implied)

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a case report of an 18 year old male patient with Glanzmann thromasthenia; however, there are no variants in ITGA2B or ITGB3 that are mentioned here

      ClinGen General InsufficientEvidence ITGA2B ITGB3 HGNC:6138 HGNC:6156 inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4740716/
  3. pdfs.semanticscholar.org pdfs.semanticscholar.org
    414.full.pdf
    1
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    pdfs.semanticscholar.org/c455/88ee9a287613b4e96a74310f19f77ead7d73.pdf
  4. Local file Local file
    hae_2516 858..869
    1
    1. ClingenBaseline 23 Oct 2026
      A systematic review of the management and outcomes ofpregnancy in Glanzmann thrombasthenia

      PMID: 21457404

      Genes: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      Insufficient Evidence: This article reports the results of a systematic review of management and outcome data contained within all published descriptions of pregnancy in GT. Probands with GT are mentioned; however, no variants are mentioned.

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  5. Local file Local file
    RCH52
    1
    1. ClingenBaseline 23 Oct 2026
      INHERITEDDEFECTS OFPLATELETFUNCTION

      PMID: 11844132

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions variants in ITGA2B and ITGB3; however, there are no specific Glanzmann thrombasthenia patients with the mentioned variants; therefore, there is insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  6. watermark.silverchair.com watermark.silverchair.com
    ajcpath130-0093.pdf
    1
    1. ClingenBaseline 23 Oct 2026
      Carrier Detection in Glanzmann ThrombastheniaComparison of Flow Cytometry and Western Blot With Respect to DNA Mutation

      PMID: 18550477

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions probands with GT; however, the probands are clumped together, and variants are not specifically tied to probands

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    watermark.silverchair.com/ajcpath130-0093.pdf
  7. Local file Local file
    Concomitant occurrence of mucopolysaccharidosis IIIB and Glanzmann's thrombasthenia. Further evidence of a hyperactive α-N-acetylglucosaminidase-producing allele
    1
    1. ClingenBaseline 23 Oct 2026
      Concomitant occurrence of mucopolysaccharidosis IIIB and Glanzmann's thrombasthenia. Further

      PMID: 1606713

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a Glanzmann thrombasthenia patient and family members of the patient; however, there is no mention of variants in ITGA2B and/or ITGB3; therefore, there is insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  8. ashpublications.org ashpublications.org
    Two novel mutations in the αIIb calcium-binding domains identify hydrophobic regions essential for αIIbβ3 biogenesis
    1
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    ashpublications.org/blood/article/101/6/2268/106593/Two-novel-mutations-in-the-IIb-calcium-binding
  9. Local file Local file
    2002; 04
    1

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  10. www.ahajournals.org www.ahajournals.org
    Platelet Integrin αIIbβ3 (GPIIb-IIIa) Is Not Implicated in the Binding of LDL to Intact Resting Platelets | Arteriosclerosis, Thrombosis, and Vascular Biology
    1
    1. ClingenBaseline 23 Oct 2026
      Platelet Integrin αIIbβ3 (GPIIb-IIIa) Is Not Implicated in the Binding of LDL to Intact Resting Platelets

      PMID: 9012651

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    ahajournals.org/doi/full/10.1161/01.atv.17.1.156
  11. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Periodontal considerations for Glanzmann's thrombasthenic patient
    1
    1. ClingenBaseline 23 Oct 2026
      Periodontal considerations for Glanzmann's thrombasthenic patient

      PMID: 20142940

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a case report of a 9 year old GT patient who presented with gum bleeding; however, no specific variants in ITGA2B and/or ITGB3 are presented in this patient; therefore we have insufficient evidnece

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC2813551/
  12. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Acquired Glanzmann's thrombasthenia associated with acute lymphoblastic leukemia. - PubMed - NCBI
    1
    1. ClingenBaseline 23 Oct 2026
      Acquired Glanzmann's thrombasthenia associated with acute lymphoblastic leukemia.

      PMID: 16217260

      Genes: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a proband with GT; however, no variants in ITGA2B and/or ITGB3 are mentioned therefore we have insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    ncbi.nlm.nih.gov/pubmed/16217260
  13. www.sciencedirect.com www.sciencedirect.com
    Correction of a large animal model of type I Glanzmann's thrombasthenia by nonmyeloablative bone marrow transplantation
    1
    1. ClingenBaseline 23 Oct 2026
      Correction of a large animal model of type I Glanzmann's thrombasthenia by nonmyeloablative bone marrow transplantation

      PMID: 14662345

      Gene: ITGA2B

      HGNC: 6138

      InsufficientEvidence: This article mentions dogs with GT; however, the article states, "These animals have a 14-base insertion in exon 13 of glycoprotein IIb gene" which is a variant in ITGA2B. This variant may only be specific to dogs; however, just wanted to make note of this gene alteration.

      ClinGen General ITGA2B HGNC:6138 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    sciencedirect.com/science/article/pii/S0301472X03003102
  14. Local file Local file
    Menorrhagia due to abnormalities of the platelet function: Evaluation of two young patients
    1
    1. ClingenBaseline 23 Oct 2026
      Menorrhagia due to abnormalities of the platelet function: Evaluation of two young patients

      PMID: 17250517

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions two GT case reports of girls with menorrhagia; however, there was no mention of variants in ITGA2B and/or ITGB3; therefore there is insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  15. www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu
    Rapid diagnosis of the French gypsy mutation in Glanzmann thrombasthenia using high-resolution melting analysis
    1
    1. ClingenBaseline 23 Oct 2026
      Rapid diagnosis of the French gypsy mutation in Glanzmann thrombasthenia using high- resolution melting analysis

      PMID: 20886184

      Gene: ITGA2B

      HGNC: 6138

      InsufficientEvidence: This article discusses the French Gypsy variant NM_000419.3:c.1544+1G>A (p.Val513Leufs*71) in ITGA2B and mentions a cohort of patients harboring this variant; however, there are no specific case level reports mentioned in this article therefore we have insufficient evidence

      ClinGen General ITGA2B HGNC:6138 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    www-thieme-connect-de.libproxy.lib.unc.edu/products/ejournals/pdf/10.1160/TH10-05-0268.pdf
  16. Local file Local file
    untitled
    1

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  17. Local file Local file
    A unique phenotype of acquired Glanzmann thrombasthenia due to non‐function‐blocking anti‐αIIbβ3 autoantibodies
    1
    1. ClingenBaseline 23 Oct 2026
      A unique phenotype of acquired Glanzmann thrombastheniadue to non-function-blocking anti-aIIbb3 autoantibodies

      PMID: 30388316

      Gene: ITGA2B and/or ITGB3 (Proband presented with GT therefore these two genes may be involved)

      HGNC: 6138 and 6156

      InsufficientEvidence: Proband with Glanzmann thrombasthenia presented in this article; however, no variant information provided

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  18. Local file Local file
    Expanding the Mutation Spectrum Affecting &#x003B1;IIb&#x003B2;3 Integrin in Glanzmann Thrombasthenia: Screening of the <i>ITGA2B</i> and <i>ITGB3</i> Genes in a Large International Cohort
    1
    1. ClingenBaseline 23 Oct 2026
      Expanding the Mutation Spectrum AffectingαIIbβ3Integrin in Glanzmann Thrombasthenia: Screening of theITGA2BandITGB3Genes in a Large International Cohor

      PMID: 25728920

      Genes: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      Note: In the annotations, case #'s don't always match up with the exact proband #, because not all probands had GT variants identified in them

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  19. Local file Local file
    Type I Glanzmann thrombasthenia: Most common subtypes in North Indians
    1
    1. ClingenBaseline 23 Oct 2026
      Type I Glanzmann Thrombasthenia: Most CommonSubtypes in North Indians

      PMID: 14508803

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions GT patients however no variants in ITGA2B and/or ITGB3 are mentioned in these patients.

      In this study the goal was to determine what the common subtype of GT was: The expression of GPIIb/IIIa on the platelet surface was assessed in 10 patients with Glanzmann thrombasthenia and their families by flow cytometry to determine the common subtype in North Indians

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  20. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Abnormal Whole Blood Thrombi in Humans with Inherited Platelet Receptor Defects
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3532496/
  21. Local file Local file
    Identifying human platelet glycoproteins IIb and IIIa by capillary electrophoresis
    1
    1. ClingenBaseline 23 Oct 2026
      Identifying human platelet glycoproteins IIb and IIIa by capillary electrophoresis

      PMID: 9694297

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  22. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Epistaxis as a Common Presenting Symptom of Glanzmann's Thrombasthenia, a Rare Qualitative Platelet Disorder: Illustrative Case Examples
    1
    1. ClingenBaseline 23 Oct 2026
      Epistaxis as a Common Presenting Symptom of Glanzmann's Thrombasthenia, a Rare Qualitative Platelet Disorder: Illustrative Case Examples

      PMID: 28299211

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions cases of patients with Glanzmann thrombasthenia and their phenotypes; however, no mention of variants in ITGB3 or ITGA2B

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5337314/
  23. jcs.biologists.org jcs.biologists.org
    jcs6596.q
    1
    1. ClingenBaseline 23 Oct 2026
      Talin distribution and phosphorylation in thrombin-activated platelets

      PMID: 8126100

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention GT probands or variants in ITGA2B and ITGB3. In this study, researchers have examined the talin phosphorylation and proteolytic cleavage as possible mechanisms by which talin's subcellular distribution could be regulated in platelets.

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    jcs.biologists.org/content/joces/106/4/1189.full.pdf
  24. Local file Local file
    A new case of acquired Glanzmann's thrombasthenia: Diagnostic value of flow cytometry
    1
    1. ClingenBaseline 23 Oct 2026
      A New Case of Acquired Glanzmann’sThrombasthenia: Diagnostic Value ofFlow Cytometry

      PMID: 18200593

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a 27 year old proband with Glanzmann thrombasthenia; however, no variants in ITGA2B and/or ITGB3 were mentioned in this proband therefore we have insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  25. watermark.silverchair.com watermark.silverchair.com
    h8090102640.pdf
    1
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    watermark.silverchair.com/h8090102640.pdf
  26. onlinelibrary.wiley.com onlinelibrary.wiley.com
    A novel Phe171Cys mutation in integrin αIIb causes Glanzmann thrombasthenia by abrogating αIIbβ3 complex formation
    1
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    onlinelibrary.wiley.com/doi/full/10.1111/j.1538-7836.2004.00758.x
  27. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Severe Intestinal Bleeding in a Woman with Glanzmann Thrombasthenia
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6346937/
  28. reader.elsevier.com reader.elsevier.com
    PII: 0049-3848(92)90275-F
    1
    1. ClingenBaseline 22 Oct 2026
      STUDIES OF THE PLATELET FIBRINOGEN RECEPTOR IN GLANZMANN PATIENTS AND UREMIC PATIENTS

      PMID: 1412224

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This mentions 2 Glanzmann thrombasthenia patients; however, no variants in ITGA2B and/or ITGB3 are mentioned in the patients. The purpose of this study was to investigate fibrinogen binding to the platelet receptor in normal subjects, patients with GT, and carriers of this disorder, s well as in patients with chronic uremia before and after treatment with recombinant erythropoiten.

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    reader.elsevier.com/reader/sd/pii/004938489290275F
  29. journals.sagepub.com journals.sagepub.com
    CAT326165 152..165
    1
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    URL

    journals.sagepub.com/doi/pdf/10.1177/1076029608326165
  30. Local file Local file
    TF-IPLT140140 779..782
    1
    1. ClingenBaseline 22 Oct 2026
      Novel mutations of integrinaIIb andb3 genes in Turkish children withGlanzmann’s thrombasthenia

      PMID: 25734216

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions 20 GT patients and variants in ITGA2B and ITGB3, which these patients harbor. However, the variants are not specific to the patient, the article has just listed a table of the variants not identifying them with their respective patients

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  31. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Sustained engraftment post bone marrow transplant despite anti‐platelet antibodies in Glanzmann thrombasthenia
    1
    1. ClingenBaseline 22 Oct 2026
      Sustained engraftment post bone marrow transplant despite anti‐platelet antibodies in Glanzmann thrombasthenia Veronica H. Flood MD Corresponding Author E-mail address: floodv@ohsu.edu Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonDivision of Pediatric Hematology/Oncology, CDRCP, Oregon Health and Science University, 3181 SW Sam Jackson Park Road, Portland, OR 97239.===Search for more papers by this author F. Leonard Johnson MD Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author Lynn K. Boshkov MD Department of Pathology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author Gregory A. Thomas MD Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author Diane J. Nugent MD Division of Hematology, Children's Hospital of Orange County, Orange, CaliforniaSearch for more papers by this author Antony C. Bakke PhD Department of Pathology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author H. Stacy Nicholson MD, MPH Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author David Tilford MD Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author Mary P. Brown MD Central Oregon Pediatrics, Bend, OregonSearch for more papers by this author Kamar T. Godder MD, MPH Corresponding Author E-mail address: godderk@ohsu.edu Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonDivision of Pediatric Hematology/Oncology, CDRCP, Oregon Health and Science University, 3181 SW Sam Jackson Park Road, Portland, OR 97239.===Search for more papers by this author

      PMID: 15768382

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions 3 probands with Glanzmann thrombasthenia; however, there is no mention of these probands bearing variants in ITGA2B and/or ITGB3; therefore, we have insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    onlinelibrary.wiley.com/doi/full/10.1002/pbc.20365
  32. Local file Local file
    Demonstration of a marked reduction in the amount of GPIIb in most type II patients with Glanzmann's thrombasthenia
    1
    1. ClingenBaseline 22 Oct 2026
      Demonstration of a marked reduction in the amount of GPIIb in most type I1 patients with Glanzmann’s thrombasthenia

      PMID: 7947235

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article employees a sensitive immunoblot assay, where researchers characterized thrombasthenic platelets from 11 GT patients. There are no specific case reports of these patients, or mention of specific variants in ITGA2B/ITGB3 which these patients harbor, therefore there is insufficient evidence

      PreviouslyPublished: Molecular defects in some of these patients has been demonstrated in these articles: Burk et al. 1991; Newman et al, 1991: Kato et al, 1992: Gu et al. 1993

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence PreviouslyPublished inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  33. Local file Local file
    Tanaka_et_al-2002-British_Journal_of_Haematology.pdf
    1

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  34. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Evaluation of rFVIIa (NovoSeven) in Glanzmann patients with thromboelastogram
    1
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    URL

    onlinelibrary.wiley.com/doi/full/10.1111/j.1365-2516.2007.01592.x
  35. onlinelibrary.wiley.com onlinelibrary.wiley.com
    A mutation in the β3 cytoplasmic tail causes variant Glanzmann thrombasthenia by abrogating transition of αIIbβ3 to an active state
    1
    1. ClingenBaseline 22 Oct 2026
      A mutation in the β3 cytoplasmic tail causes variant Glanzmann thrombasthenia by abrogating transition of αIIbβ3 to an active state

      PMID: 22136613

      Gene: ITGA2B and ITBG3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions variants in ITGA2B and ITGB3; however, no individual probands are mentioned

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    onlinelibrary.wiley.com/doi/full/10.1111/j.1538-7836.2011.04577.x
  36. www.tandfonline.com www.tandfonline.com
    Classification of Iranian patients with Glanzmann's Thrombasthenia using a flow cytometric method
    1
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    URL

    tandfonline.com/doi/full/10.3109/09537104.2011.556275
  37. clinchem.aaccjnls.org clinchem.aaccjnls.org
    746.full.pdf
    1
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    clinchem.aaccjnls.org/content/clinchem/59/5/746.full.pdf
  38. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Rapid Heterozygote Detection in Glanzmann's Thrombasthenia
    1
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    pubmed.ncbi.nlm.nih.gov/9576183-rapid-heterozygote-detection-in-glanzmanns-thrombasthenia/
  39. watermark.silverchair.com watermark.silverchair.com
    696.pdf
    1
    1. ClingenBaseline 22 Oct 2026
      A Defect of Platelet Aggregation Associated With an Abnormal Distribution of Glycoprotein IIb-IIIa Complexes Within the Platelet: The Cause of a Lifelong Bleeding Disorder

      PMID: 1638023

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    watermark.silverchair.com/696.pdf
  40. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Use of autologous platelet‐rich clots for the prevention of local injury bleeding in patients with severe inherited mucocutaneous bleeding disorders
    1
    1. ClingenBaseline 22 Oct 2026
      Use of autologous platelet‐rich clots for the prevention of local injury bleeding in patients with severe inherited mucocutaneous bleeding disorders

      PMID: 21323803

      Gene: ITGA2B

      HGNC: 6138

      InsufficientEvidence: This article mentions a 60 year old Glanzmann thrombasthenia proband with missense mutations in ITGA2B; however, article does not have data for what mutations the proband has

      ClinGen General ITGA2B HGNC:6138 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    onlinelibrary.wiley.com/doi/full/10.1111/j.1365-2516.2010.02480.x
  41. www.tandfonline.com www.tandfonline.com
    09537100310001598792
    1
    1. ClingenBaseline 22 Oct 2026
      Platelet function tests using plateletaggregometry: need for repetition of the test fordiagnosis of defective platelet function

      PMID: 14602548

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article is mentions a cohort of 497 patients referred to their laboratory from all over Mumbai for investigation of spontaneous mucocutaneous bleeding. 61 of these patnets had Glanzmann thrombasthenia; however, no variants in ITGA2B and/or ITGB3 were mentioned in these patients therefore there is insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    tandfonline.com/doi/pdf/10.1080/09537100310001598792
  42. reader.elsevier.com reader.elsevier.com
    PII: S0022-2143(96)90133-X
    1
    1. ClingenBaseline 22 Oct 2026
      Characterization of a new hereditary thrombopathy in a closed colony of Wistar rats

      PMID: 8960644

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report. This study identifies and partially characterizes an inherited thrombopathy in a closed colony of Wistar rats.

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
    Visit annotations in context

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    URL

    reader.elsevier.com/reader/sd/pii/S002221439690133X
  43. www.sciencedirect.com www.sciencedirect.com
    Variant type Glanzmann thrombasthenia caused by homozygous p.724R > X mutation in β3 integrin
    1
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    URL

    sciencedirect.com/science/article/pii/S0049384810000083
  44. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Combination of acquired von Willebrand syndrome (AVWS) and Glanzmann thrombasthenia in monoclonal gammopathy of uncertain significance (MGUS), a case report
    1
    1. ClingenBaseline 22 Oct 2026
      Combination of acquired von Willebrand syndrome (AVWS) and Glanzmann thrombasthenia in monoclonal gammopathy of uncertain significance (MGUS), a case report

      PMID: 30534006

      Gene: ITGA2B and/or ITGB3 (Proband has GT; therefore, these two genes may be involved)

      HGNC: 6138 and 6156

      InsufficientEvidence: Proband with acquired Glanzmann thrombasthenia presented here; however, no mention of any variants therefore insufficient evidence

      General ClinGen ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC6260759/
  45. journals.sagepub.com journals.sagepub.com
    Characterization of the cDNA Encoding αIIb and β3 in Normal Horses and Two Horses with Glanzmann Thrombasthenia - P. W. Christopherson, T. A. Insalaco, V. L. van Santen, L. Livesey, C. Bourne, M. K. Boudreaux, 2006
    1
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    URL

    journals.sagepub.com/doi/full/10.1354/vp.43-1-78
  46. ashpublications-org.libproxy.lib.unc.edu ashpublications-org.libproxy.lib.unc.edu
    Platelet Prothrombinase Activity and Intracellular Calcium Responses in Patients With Storage Pool Deficiency, Glycoprotein IIb-IIIa Deficiency, or Impaired Platelet Coagulant Activity — A Comparison With Scott Syndrome
    1
    1. ClingenBaseline 22 Oct 2026
      Platelet Prothrombinase Activity and Intracellular Calcium Responses in Patients With Storage Pool Deficiency, Glycoprotein IIb-IIIa Deficiency, or Impaired Platelet Coagulant Activity — A Comparison With Scott Syndrome

      PMID: 9057642

      Gene: ITGA2B

      HGNC: 6138

      InsufficientEvidence: This article mentions GT patients that have been previously reported; however, this article does not mention any specific GT case reports with variants in ITGA2B and/or ITGB#

      InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence

      PreviouslyPublished: PMIDs: 8329704 and 2935207

      ClinGen General ITGA2B HGNC:6138 InsufficientEvidence PreviouslyPublished inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    ashpublications-org.libproxy.lib.unc.edu/blood/article/89/5/1599/236328/Platelet-Prothrombinase-Activity-and-Intracellular
  47. Local file Local file
    VINCIGUERRA_et_al-1996-British_Journal_of_Haematology.pdf
    1

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  48. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Glanzmann's thrombasthenia: report of a case and review of the literature
    1
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC2872751/
  49. pdf.sciencedirectassets.com pdf.sciencedirectassets.com
    PII: 0161-5890(95)00034-C
    1
    1. ClingenBaseline 22 Oct 2026
      REPERTOIRE CLONING OF A HUMAN Molecular Immunology, Vol. 32, No. 9, pp. 613-622, 1995 Copyright 0 1995 Elsevier Science Ltd Printed in Great Britain. All rights reserved 0161~5890/95 $9.50 + 0.00 IgG INHIBITOR OF a,,& FUNCTION. THE OG IDIOTYPE

      PMID: 7543974

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a GT proband; however, no variants in ITGA2B and/or ITGB3 are mentioned in this proband

      ClinGen General ITGA2B ITGB3 HGNC:6156 HGNC:6138 InsufficientEvidence inferred_gene_hgnc:6156 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    pdf.sciencedirectassets.com/271183/1-s2.0-S0161589000X00132/1-s2.0-016158909500034C/main.pdf
  50. pdf.sciencedirectassets.com pdf.sciencedirectassets.com
    PII: 0736-4679(96)00024-8
    1
    1. ClingenBaseline 22 Oct 2026
      The Journal of Emergency Medicine, Vol 14, No 3. pp 29Y-303. 1996 Copyright 0 1996 Elsevier Science Inc. Printed in the USA. All rights reserved 0736.4679N6 $lS.On -a- .O

      PMID: 8782023

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence

      Note: Hypothes.is would not let me highlight the title of the article so I highlighted the journal

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    pdf.sciencedirectassets.com/271282/1-s2.0-S0736467900X00017/1-s2.0-0736467996000248/main.pdf
  51. Local file Local file
    Serine 752 in the Cytoplasmic Domain of the β3 Integrin Subunit Is not Required for αvβ3 Postreceptor Signaling Events
    1
    1. ClingenBaseline 22 Oct 2026
      Serine 752 in the Cytoplasmic Domain of the p3 Integrin Subunit Is not Required for avp3 Postreceptor Signaling Events

      PMID: 8870971

      Gene: ITGA2B

      HGNC: 6138

      InsufficientEvidence: This article mentions a variant in ITGA2B; however, there are no new case reports in this article. There is a previously published patient with the variant of interest, which has been tagged.

      ClinGen General ITGA2B HGNC:6138 inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  52. reader.elsevier.com reader.elsevier.com
    PII: 0049-3848(92)90236-4
    1
    1. ClingenBaseline 22 Oct 2026
      GLYCOPROTEIN h/Ha-MEDIATED ACTIVATION-DEPENDENT PLATELET ADHESION TO COLLAGEN

      PMID: 1579893

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence. In this study, they developed an assay method of platelet adhesion to collagen in which citrated platelet rich plasma could be used as well as washed platelets in the presence of anti GPIIb/IIIa monoclonal antibody. Here, they provided the first direct evidence that the activation depended platelet adhesion to collagen is induced by ADP and that this adhesion is also mediated by GPIa/IIa.

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    reader.elsevier.com/reader/sd/pii/0049384892902364
  53. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Dissociation between fibrinogen and fibrin interaction with platelets in patients with different subtypes of Glanzmann's thrombasthenia: studies in an ex vivo perfusion chamber model
    1
    1. ClingenBaseline 22 Oct 2026
      Dissociation between fibrinogen and fibrin interaction with platelets in patients with different subtypes of Glanzmann's thrombasthenia: studies in an ex vivo perfusion chamber model

      PMID: 12472580

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article does not mention any new case reports of GT; however, there are previously published probands mentioned in this article; therefore, there is insufficient evidence.

      PreviouslyPublished: PMID: 2180491, 9226191, 3818957, 7509233

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence PreviouslyPublished inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
    Visit annotations in context

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    URL

    onlinelibrary.wiley.com/doi/full/10.1046/j.1365-2141.2002.03966.x
  54. Local file Local file
    DDAVP infusion can modify VASP phosphorylation in human platelets
    1
    1. ClingenBaseline 22 Oct 2026
      DDAVP infusion can modify VASP phosphorylation in humanplatelets

      PMID: 15102025

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions "a platelet defect as a heterozygous Glanzmann thrombasthenia" however unable to access the article they cited after that sentence to get further information on the heterozygous variant

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  55. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Mutation analysis for a patient with Glanzmann thrombasthenia who produced a landmark isoantibody to the αIIbβ3 integrin
    1
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    onlinelibrary.wiley.com/doi/full/10.1111/j.1538-7836.2010.03920.x
  56. www.ahajournals.org www.ahajournals.org
    Patients With Glanzmann Thrombasthenia Lacking Platelet Glycoprotein αIIbβ3 (GPIIb/IIIa) and αvβ3 Receptors Are Not Protected From Atherosclerosis | Circulation
    1
    1. ClingenBaseline 22 Oct 2026
      Patients With Glanzmann Thrombasthenia Lacking Platelet Glycoprotein αIIbβ3 (GPIIb/IIIa) and αvβ3 Receptors Are Not Protected From Atherosclerosis

      PMID: 11877352

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions GT patients and 2 variants in ITGA2B and/or ITGB3 that have been seen in these patients; however, there is no direct correlation for which patients harbor which variant; therefore there is insufficient evidence

      "Five were homozygous for the 11-bp deletion in the β3 gene11 and 2 were homozygous for a splice site mutation of the αIIb gene"

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    ahajournals.org/doi/full/10.1161/hc0902.104676
  57. reader.elsevier.com reader.elsevier.com
    PII: S0268-960X(02)00030-9
    1
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    reader.elsevier.com/reader/sd/pii/S0268960X02000309
  58. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients
    1
    1. ClingenBaseline 22 Oct 2026
      Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients E. J. R. NELSON Departments of HematologySearch for more papers by this author S. C. NAIR Clinical Pathology, Christian Medical College, Vellore, IndiaSearch for more papers by this author H. PERETZ Clinical Biochemistry Laboratory, Tel Aviv Sourasky Medical Center, Tel‐Aviv, IsraelSearch for more papers by this author B. S. COLLER Laboratory of Blood and Vascular Biology, The Rockefeller University, New York, NY, USASearch for more papers by this author U. SELIGSOHN Institute of Thrombosis and Hemostasis, The Chaim Sheba Medical Center, Tel‐Hashomer, IsraelSearch for more papers by this author M. CHANDY Departments of HematologySearch for more papers by this author A. SRIVASTAVA Departments of HematologySearch for more papers by this author

      PMID: 16879215

      Gene: ITGA2B and ITBG3

      HGNC: 6138 and 6156

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
    Visit annotations in context

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    URL

    onlinelibrary.wiley.com/doi/full/10.1111/j.1538-7836.2006.02066.x
  59. Local file Local file
    Independent adjudicator assessments of platelet refractoriness and rFVIIa efficacy in bleeding episodes and surgeries from the multinational Glanzmann's thrombasthenia registry
    1
    1. ClingenBaseline 22 Oct 2026
      Independent adjudicator assessments of platelet refractorinessand rFVIIa efficacy in bleeding episodes and surgeries from themultinational Glanzmann’s thrombasthenia registry

      PMID: 28370369

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      NoEvidence: No GT probands or variants within ITGA2B or ITGB3 mentioned in this article

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  60. www.indianpediatrics.net www.indianpediatrics.net
    Case-1.pmd
    1
    1. ClingenBaseline 22 Oct 2026
      Glanzmann Thrombasthenia in a Newborn with Heterozygous Factor VLeiden and Heterozygous MTHFR C677T Gene Mutations

      PMID: 30819996

      Gene: ITGA2B and/or ITGB3 (Proband has GT; therefore, one of these variants may be implicated)

      HGNC: 6138 and 6156

      InsufficientEvidence: Case report presented in this article with Glanzmann thrombasthenia; however, sequencing reveals differential diagnosis to GT, with mutations in other genes.

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    indianpediatrics.net/feb2019/143.pdf
  61. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Acquired Glanzmann's thrombasthenia caused by glycoprotein IIb/IIIa autoantibodies of the immunoglobulin G1 (IgG1), IgG2 or IgG4 subclass: a study ... - PubMed - NCBI
    1
    1. ClingenBaseline 22 Oct 2026
      Acquired Glanzmann's thrombasthenia caused by glycoprotein IIb/IIIa autoantibodies of the immunoglobulin G1 (IgG1), IgG2 or IgG4 subclass: a study in six cases.

      PMID: 19138263

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions probands with GT; however, no mention of variants in ITGA2B and/or ITGB3

      Note: Full-text found on UNC library website-- was not able to annotate on that document therefore annotation found here

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    ncbi.nlm.nih.gov/pubmed/19138263
  62. www.thieme-connect.com www.thieme-connect.com
    Characterisation of patients with Glanzmann thrombasthenia and identification of 17 novel mutations
    1
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    thieme-connect.com/products/ejournals/pdf/10.1160/TH14-05-0479.pdf
  63. Local file Local file
    Acquired glanzmann's thrombasthenia associated with hodgkin's lymphoma
    1
    1. ClingenBaseline 22 Oct 2026
      Acquired Glanzmann’s Thrombasthenia Associatedwith Hodgkin’s Lymphoma

      PMID: 9576300

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  64. www.nature.com www.nature.com
    Bone marrow transplantation in severe Glanzmann's thrombasthenia with antiplatelet alloimmunization
    1
    1. ClingenBaseline 22 Oct 2026
      Bone marrow transplantation in severe Glanzmann's thrombasthenia with antiplatelet alloimmunization

      PMID: 10673707

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a Glanzmann thrombasthenia patient; however, there is no mention of variants in ITGA2B and/or ITGB3; therefore, there is insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    nature.com/articles/1702139
  65. www.tandfonline.com www.tandfonline.com
    PMA induces platelet activation of specific antigens (CD62/CD63) in GpIIb-IIIa deficient platelets from Glanzmann's thrombasthenia
    1
    1. ClingenBaseline 22 Oct 2026
      PMA induces platelet activation of specificantigens (CD62/CD63) in GpIIb-IIIa deficientplatelets from Glanzmann's thrombasthenia

      PMID: 16793673

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions individuals with Glanzmann thrombasthenia; however, the probands don't have variants in ITGAB and/or ITGB3 mentioned

      ClinGen General ITGA2B ITGB3 HGNC:6156 HGNC:6138 InsufficientEvidence inferred_gene_hgnc:6156 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    tandfonline.com/doi/pdf/10.1080/09537109777078
  66. link.springer.com link.springer.com
    Identification of Clinicopathological Spectrum, Platelet Glycoprotein IIb/IIIa complex and Platelet Antibodies in Egyptian Children with Glanzmann’s Thrombasthenia
    1
    1. ClingenBaseline 22 Oct 2026
      Identification of Clinicopathological Spectrum, Platelet Glycoprotein IIb/IIIa complex and Platelet Antibodies in Egyptian Children with Glanzmann’s Thrombasthenia

      PMID: 28161816

      Gene: ITGA2B and ITGB3

      HGNC 6138 and 6156

      NoEvidence: The aim of this article's study was to evaluate the clinicopathological spectrum of this syndrome and to study the platelet glycoprotein IIb/IIIa complex and platelet antibodies by flow cytometry in a cohort of children with GT in a tertiary care center in Upper Egypt. There is no mention of individual probands with variants in ITGA2B or ITGB3

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    link.springer.com/article/10.1007/s00005-017-0454-x
  67. Local file Local file
    1017.full.pdf
    1

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  68. www.sciencedirect.com www.sciencedirect.com
    A novel Pro126His β propeller mutation in integrin αIIb causes Glanzmann thrombasthenia by impairing progression of pro-αIIbβ3 from endoplasmic reticulum to Golgi
    1
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    sciencedirect.com/science/article/pii/S1079979608001824
  69. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Acquired Glanzmann’s thrombasthenia associated with Hairy cell leukaemia
    1
    1. ClingenBaseline 22 Oct 2026
      Acquired Glanzmann’s thrombasthenia associated with Hairy cell leukaemia M. Kannan All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author T. Chatterjee All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author F. Ahmad All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author R. Kumar DR BRA IRCH, New Delhi, IndiaSearch for more papers by this author V. P. Choudhry All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author R. Saxena All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author

      PMID: 19594615

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions an individual with Hairy cell leukemia who presented with bleeding diathesis diagnosed to have acquired GT. There is no mention of ITGA2B/ ITGB3 variants in this individual.

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/j.1365-2362.2009.02194.x
  70. www.tandfonline.com www.tandfonline.com
    A novel amino acid substitution of integrin αIIb in Glanzmann thrombasthenia confirms that the N-terminal region of the receptor plays a role in maintaining β-propeller structure
    1
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    URL

    tandfonline.com/doi/full/10.3109/09537104.2012.665278
  71. reader.elsevier.com reader.elsevier.com
    PII: S0049-3848(97)00014-5
    1
    1. ClingenBaseline 22 Oct 2026
      ANEWMETHODFORQUANTITATIVEANALYSISOFWHOLEBLOODPLATELETINTERACTIONWITHEXTRACELLULARMATRIXUNDERFLOWCONDITIONS

      PMID: 9062952

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    reader.elsevier.com/reader/sd/pii/S0049384897000145
  72. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Fetal‐neonatal alloimmune thrombocytopenia and unexpected Glanzmann thrombasthenia carrier: report of two cases
    1
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    URL

    onlinelibrary.wiley.com/doi/full/10.1111/j.0041-1132.2005.04275.x
  73. Local file Local file
    jth_1159 482..488
    1
    1. ClingenBaseline 22 Oct 2026
      ORIGINAL ARTICLEMutations in GPIIIa molecule as a cause for Glanzmannthrombasthenia in Indian patients

      PMID: 15748237

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 1656

      InsufficientEvidence: This article mentions 22 GT patients and variants, which these patients harbor; however, the article does not specify which patient harbors which variants therefore there is insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  74. ashpublications.org ashpublications.org
    Defects in Glanzmann thrombasthenia and LAD-III (LAD-1/v) syndrome: the role of integrin β1 and β3 in platelet adhesion to collagen
    1
    1. ClingenBaseline 22 Oct 2026
      Defects in Glanzmann thrombasthenia and LAD-III (LAD-1/v) syndrome: the role of integrin β1 and β3 in platelet adhesion to collagen

      PMID: 22065596

      Genes: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention probands or variants in ITGA2B or ITGB3; however, there are some experimental assays for consideration

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    ashpublications.org/blood/article/119/2/583/105498/Defects-in-Glanzmann-thrombasthenia-and-LAD-III
  75. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Upregulation of osteoclast α2β1 integrin compensates for lack of αvβ3 vitronectin receptor in Iraqi‐Jewish‐type Glanzmann thrombasthenia
    1
    1. ClingenBaseline 22 Oct 2026
      Upregulation of osteoclast α2β1 integrin compensates for lack of αvβ3 vitronectin receptor in Iraqi‐Jewish‐type Glanzmann thrombasthenia

      PMID: 12956766

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions GT patients; however, there are no variants presented in ITGA2B and/or ITGB3

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    onlinelibrary.wiley.com/doi/full/10.1046/j.1365-2141.2003.04530.x
  76. Local file Local file
    CASE REPORT: Severe and Relapsing Upper Gastrointestinal Bleeding in a Patient with Glanzmann's Thrombasthenia
    1
    1. ClingenBaseline 22 Oct 2026
      Severe and Relapsing Upper GastrointestinalBleeding in a Patient withGlanzmann’s Thrombasthenia

      PMID: 10749344

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a Glanzmann thrombasthenia patient (Patient DM, 55 year old); however, no variants in ITGA2B and/or ITGB3 were mentioned in this proband therefore there is insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  77. www.jimmunol.org www.jimmunol.org
    A Novel Leukocyte Adhesion Deficiency III Variant: Kindlin-3 Deficiency Results in Integrin- and Nonintegrin-Related Defects in Different Steps of Leukocyte Adhesion
    1
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    URL

    jimmunol.org/content/jimmunol/186/9/5273.full.pdf
  78. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Therapeutic expression of the platelet-specific integrin, αIIbβ3, in a murine model for Glanzmann thrombasthenia
    1
    1. ClingenBaseline 21 Oct 2026
      Therapeutic expression of the platelet-specific integrin, αIIbβ3, in a murine model for Glanzmann thrombasthenia

      PMID:* 15972454

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report

      Note: This article investigated the practicality of gene therapy for correcting molecular defects in platelets, and targeted expression of the human integrin β3-subunit in megakaryocytes of β3–/– mice affected with GT. Although, this does not apply to the Platelet Disorder VCEP functional criteria, this could be useful experimental assay information as this deals with mouse models

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC1895311/
  79. www.thieme-connect.com www.thieme-connect.com
    Untitled document
    1
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    thieme-connect.com/products/ejournals/pdf/10.1055/s-0038-1676348.pdf
  80. Local file Local file
    Interesting variations on how a disease is defined: comparisons of von Willebrand disease and Glanzmann thrombasthenia
    1

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  81. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Recognition and management of platelet-refractory bleeding in patients with Glanzmann’s thrombasthenia and other severe platelet function disorders
    1
    1. ClingenBaseline 21 Oct 2026
      Recognition and management of platelet-refractory bleeding in patients with Glanzmann’s thrombasthenia and other severe platelet function disorders

      PMID: 28435309

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article reviews the rFVIIa clinical data in patients with GT and platelet refractoriness and discusses clinical implications relevant to the hospital-based physician. This article does not mention probands with variants in ITGA2B or ITGB3

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5388206/
  82. Local file Local file
    Bilateral linkage between a new deletion polymorphism in intron 21 of the GP lib gene and the HPA-3b (Bakb) determinant
    1
    1. ClingenBaseline 21 Oct 2026
      Bilateral linkage between a new deletion polymorphism in intron 21 of the GP IIb gene and the HPA-3b (Bakb) determinant

      PMID: 8555087

      Gene: ITGA2B

      HGNC: 6138

      InsufficientEvidence: This article mentions a variant in ITGA2B; however, there are no specific case reports in this article, rather a large cohort that was tested

      ClinGen General ITGA2B HGNC:6138 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  83. www.sciencedirect.com www.sciencedirect.com
    Modeling Glanzmann thrombasthenia using patient specific iPSCs and restoring platelet aggregation function by CD41 overexpression
    1
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    URL

    sciencedirect.com/science/article/pii/S1873506117300168
  84. europepmc.org europepmc.org
    In silico analysis of structural modifications in and around the integrin αIIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia
    1
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    URL

    europepmc.org/article/med/29385657
  85. onlinelibrary.wiley.com onlinelibrary.wiley.com
    HAE_2744 201..209
    1
    1. ClingenBaseline 21 Oct 2026
      Natural history of platelet antibody formation against αIIbβ3 in a French cohort of Glanzmann thrombasthenia patients M. FIORE Centre de Référence des Pathologies Plaquettaires (CRPP), Plateforme Technologique d’Innovation Biomédicale, Hôpital Xavier Arnozan, PessacSearch for more papers by this author N. FIRAH Hôpital des Enfants ‐ Hôpital Pellegrin – CHU Bordeaux, Unité d’Hématologie Pédiatrique, BordeauxSearch for more papers by this author X. PILLOIS Centre de Référence des Pathologies Plaquettaires (CRPP), Plateforme Technologique d’Innovation Biomédicale, Hôpital Xavier Arnozan, PessacSearch for more papers by this author P. NURDEN Centre de Référence des Pathologies Plaquettaires (CRPP), Plateforme Technologique d’Innovation Biomédicale, Hôpital Xavier Arnozan, PessacSearch for more papers by this author R. HEILIG Genoscope, Centre National de Séquençage, 91000, Evry, FranceSearch for more papers by this author A. T. NURDEN Centre de Référence des Pathologies Plaquettaires (CRPP), Plateforme Technologique d’Innovation Biomédicale, Hôpital Xavier Arnozan, PessacSearch for more papers by this author

      PMID: 22250950

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      ClinGen General ITGA2B ITGB3 HGNC:6156 HGNC:6138 inferred_gene_hgnc:6156 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
    Visit annotations in context

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    URL

    onlinelibrary.wiley.com/doi/full/10.1111/j.1365-2516.2011.02744.x
  86. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The platelet fibrinogen receptor: from megakaryocyte to the mortuary
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3738324/
  87. Local file Local file
    Nutritional zinc increases platelet reactivity
    1

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  88. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    C:/pws/bico746
    1
    1. ClingenBaseline 21 Oct 2026
      Association of thrombospondin-1 with the actin cytoskeleton of humanthrombin-activated platelets through anaIIbb3- or CD36-independentmechanism

      PMID: 11964147

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a Glanzmann thrombasthenia patient who was studied; however, the patient did not have variants in ITGA2B and/or ITGB3 mentioned in this article, therefore there is insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC1222499/pdf/11964147.pdf
  89. ashpublications.org ashpublications.org
    Real-Time Analysis of Mural Thrombus Formation in Various Platelet Aggregation Disorders: Distinct Shear-Dependent Roles of Platelet Receptors and Adhesive Proteins Under Flow
    1
    1. ClingenBaseline 21 Oct 2026
      Real-Time Analysis of Mural Thrombus Formation in Various Platelet Aggregation Disorders: Distinct Shear-Dependent Roles of Platelet Receptors and Adhesive Proteins Under Flow

      PMID: 10419888

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions 3Glanzmann thrombasthenia patients; however, there is no mention of variants in ITGA2B and/or ITGB3 within these patients; therefore, there is insufficient evidence. In the present study, they observed the real-time process of mural thrombogenesis on a type 1 collagen coated surface under flow conditions with various shear rates in the blood of patients with major congenital platelet aggregation disorders

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    ashpublications.org/blood/article/94/3/968/125387/Real-Time-Analysis-of-Mural-Thrombus-Formation-in
  90. Local file Local file
    REV_ISS_WEB_BJH_12662_165-2 165..178
    1
    1. ClingenBaseline 21 Oct 2026
      Congenital platelet disorders and understanding of plateletfunction

      PMID: 24286193

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions variants in ITGA2B and ITGB3; however, there are no probands with these variants mentioned in this article. Article mentions, "Due to space restrictions, single case reports have mostly been omitted, as have many historical reports with no recent update"

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  91. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    On the Role of Von Willebrand Factor in Promoting Platelet Adhesion to Fibrin in Flowing Blood
    1
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    pubmed.ncbi.nlm.nih.gov/7492773-on-the-role-of-von-willebrand-factor-in-promoting-platelet-adhesion-to-fibrin-in-flowing-blood/
  92. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Levonorgestrel-releasing intrauterine system for treatment of heavy menstrual bleeding in adolescents with Glanzmann’s Thrombasthenia: illustrated case series
    1
    1. ClingenBaseline 21 Oct 2026
      Levonorgestrel-releasing intrauterine system for treatment of heavy menstrual bleeding in adolescents with Glanzmann’s Thrombasthenia: illustrated case series

      PMID: 29486748

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: There are two probands in this article with Glanzmann thrombasthenia; however, no mention of variants in these two patients and no mention of ITGA2B or ITBG3 genes

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5830334/
  93. link.springer.com link.springer.com
    Glanzmann&#x2019;s Thrombasthenia
    1
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    link.springer.com/content/pdf/10.1007/BF02723255.pdf
  94. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Protein A Sepharose immunoadsorption can restore the efficacy of platelet concentrates in patients with Glanzmann's thrombasthenia and anti‐glycoprotein IIb–IIIa antibodies
    1
    1. ClingenBaseline 21 Oct 2026
      Protein A Sepharose immunoadsorption can restore the efficacy of platelet concentrates in patients with Glanzmann's thrombasthenia and anti‐glycoprotein IIb–IIIa antibodies Isabelle Martin Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Fayçal Kriaa Service de Néphrologie, CHU Kremlin Bicêtre, Assistance Publique‐Hôpitaux de Paris and Faculté de Médecine Paris XI, Le Kremlin‐Bicêtre,Search for more papers by this author Valérie Proulle Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Benoît Guillet Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Cécile Kaplan Laboratoire d'Immunologie Plaquettaire, INTS,Search for more papers by this author Roseline D'Oiron Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Marianne Debré Unité d'Hématologie et d'Immunologie Pédiatrique, Hôpital Necker‐Enfants Malades, Paris, andSearch for more papers by this author Edith Fressinaud Laboratoire d'Hématologie, Centre Hospitalier Régional de Nantes, FranceSearch for more papers by this author Yyes Laurian Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Gil Tchernia Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Bernard Charpentier Service de Néphrologie, CHU Kremlin Bicêtre, Assistance Publique‐Hôpitaux de Paris and Faculté de Médecine Paris XI, Le Kremlin‐Bicêtre,Search for more papers by this author Thierry Lambert Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Marie Dreyfus Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author

      PMID: 12472579

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions GT probands; however, there is no mention of these patients harboring variants in ITGA2B and/or ITGB3; therefore, we have insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
    Visit annotations in context

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    URL

    onlinelibrary.wiley.com/doi/full/10.1046/j.1365-2141.2002.03936.x
  95. Local file Local file
    untitled
    1

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  96. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    jcinvest00025-0196.pdf
    1
    1. ClingenBaseline 21 Oct 2026
      AnInheritedBleedingDisorderLinkedtoaDefectiveInteractionbetweenADPandItsReceptoronPlatelets

      PMID: 7706468

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC295660/pdf/jcinvest00025-0196.pdf
  97. Local file Local file
    LETTERS TO THE EDITOR: Red blood cell transfusion in patients with type 1 Glanzmann's thrombasthenia
    1
    1. ClingenBaseline 21 Oct 2026
      Red blood cell transfusion in patients with type 1 Glanzmann’sthrombasthenia

      PMID: 16194208

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a proband with GT; however, there is no mention of variants in ITGA2B and/or ITGB3, therefore we have insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  98. www.thieme-connect.com www.thieme-connect.com
    Alloimmunization in Congenital Deficiencies of Platelet Surface Glycoproteins: Focus on Glanzmann's Thrombasthenia and Bernard–Soulier's Syndrome
    1
    1. ClingenBaseline 21 Oct 2026
      Alloimmunization in Congenital Deficiencies of Platelet Surface Glycoproteins: Focus on Glanzmann's Thrombasthenia and Bernard–Soulier's Syndrome

      PMID: 29879742

      Gene:ITGA2B

      HGNC: 6138

      InsufficientEvidence Variant IVS15(+1)G > A mutation in ITGA2B is mentioned in this article; however, no proband to tie variant to therefore we have insufficient evidence

      ClinGen General HGNC:6138 ITGA2B inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    thieme-connect.com/products/ejournals/html/10.1055/s-0038-1648233
  99. Local file Local file
    Rapid diagnosis of the French gypsy mutation in Glanzmann thrombasthenia using high-resolution melting analysis
    1

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  100. www.haematologica.org www.haematologica.org
    Three novel mutations in the glycoprotein IIb gene in a patient with type II Glanzmann thrombasthenia
    1
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    haematologica.org/content/92/5/698
  101. reader.elsevier.com reader.elsevier.com
    Triple jeopardy_ A case of Glanzmann's thrombasthenia with anti-GPIIb-IIIa antibodies and HPA incompatibility resulting in stillbirth
    1
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    reader.elsevier.com/reader/sd/pii/S0049384819303159
  102. journals.lww.com journals.lww.com
    Evaluation of the Efficacy of Alka-Seltzer Effervescent in G... : Anesthesia & Analgesia
    1
    1. ClingenBaseline 21 Oct 2026
      Perioperative Management of a Heterozygous Carrier of Glanzmann’s Thrombasthenia Submitted to Coronary Artery Bypass Grafting With Cardiopulmonary Bypass

      PMID: 16861409

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    journals.lww.com/anesthesia-analgesia/pages/articleviewer.aspx
  103. onlinelibrary.wiley.com onlinelibrary.wiley.com
    A novel homozygous splice junction mutation in GPIIb associated with alternative splicing, nonsense‐mediated decay of GPIIb‐mRNA, and type II Glanzmann's thrombasthenia
    1
    1. ClingenBaseline 21 Oct 2026
      A novel homozygous splice junction mutation in GPIIb associated with alternative splicing, nonsense‐mediated decay of GPIIb‐mRNA, and type II Glanzmann's thrombasthenia C. González‐Manchón Department of Pathophysiology and Human Molecular Genetics, Centro de Investigaciones Biológicas (CSIC), Madrid, Spain; andSearch for more papers by this author E. G. Arias‐Salgado Department of Pathophysiology and Human Molecular Genetics, Centro de Investigaciones Biológicas (CSIC), Madrid, Spain; andSearch for more papers by this author N. Butta Department of Pathophysiology and Human Molecular Genetics, Centro de Investigaciones Biológicas (CSIC), Madrid, Spain; andSearch for more papers by this author G. Martín Department of Pathophysiology and Human Molecular Genetics, Centro de Investigaciones Biológicas (CSIC), Madrid, Spain; andSearch for more papers by this author R. B. Rodríguez Department of Pathophysiology and Human Molecular Genetics, Centro de Investigaciones Biológicas (CSIC), Madrid, Spain; andSearch for more papers by this author I. Elalamy Service d'Hématologie Biologique, Hôpital d'Enfants A Trousseau, Paris, FranceSearch for more papers by this author R. Parrilla Department of Pathophysiology and Human Molecular Genetics, Centro de Investigaciones Biológicas (CSIC), Madrid, Spain; andSearch for more papers by this author R. Favier Service d'Hématologie Biologique, Hôpital d'Enfants A Trousseau, Paris, FranceSearch for more papers by this author

      PMID: 12871379

      Gene: ITGA2B

      HGNC: 6138

      ClinGen General ITGA2B HGNC:6138 inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
    Visit annotations in context

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    URL

    onlinelibrary.wiley.com/doi/full/10.1046/j.1538-7836.2003.00204.x
  104. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    In silico analysis of Glanzmann variants of Calf-1 domain of αIIbβ3 integrin revealed dynamic allosteric effect
    1
    1. ClingenBaseline 21 Oct 2026
      In silico analysis of Glanzmann variants of Calf-1 domain of αIIbβ3 integrin revealed dynamic allosteric effect

      PMID: 28808266

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions 7 Glanzmann thrombasthenia variants that were identified in a long independent molecular dynamics simulation. There are no probands with these variants mentioned.

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC5556033/
  105. reader.elsevier.com reader.elsevier.com
    Inherited Bleeding Disorders in the Obstetric Patient
    1
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    reader.elsevier.com/reader/sd/pii/S0887796318300452
  106. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC4737203/
  107. www.tandfonline.com www.tandfonline.com
    Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment
    1
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    tandfonline.com/doi/full/10.1586/ehm.12.46
  108. reader.elsevier.com reader.elsevier.com
    PII: 0011-5029(92)90015-H
    1
    1. ClingenBaseline 21 Oct 2026
      DISORDERS OF PLATELET FUNCTION

      PMID: 1321709

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article is a review on Glanzmann thrombasthenia, it does not mention specific patients or variants in ITGA2B and/or ITGB3; however, it does mention probands in other papers

      PreviouslyPublished: PMID: 1702098, 1967954

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence PreviouslyPublished inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    reader.elsevier.com/reader/sd/pii/001150299290015H
  109. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC4302577/
  110. reader.elsevier.com reader.elsevier.com
    PII: S10
    1
    1. ClingenBaseline 21 Oct 2026
      The biologic and clinical spectrum of Glanzmann’s Thrombasthenia:implications of integrinaIIbb3for its pathogenesis

      PMID: 9246538

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article is a review and goes over many patients from the Glanzmann thrombasthenia database https://glanzmann.mcw.edu/

      PreviouslyPublished: All these probands have been previously published in the GT database https://glanzmann.mcw.edu/ please search the database to get info. There are no "new' case reports in this article

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence PreviouslyPublished inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    reader.elsevier.com/reader/sd/pii/S1040842897000115
  111. www.jbc.org.libproxy.lib.unc.edu www.jbc.org.libproxy.lib.unc.edu
    4450.full.pdf
    1
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    URL

    jbc.org.libproxy.lib.unc.edu/content/269/6/4450.full.pdf
  112. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Demonstration of novel gain-of-function mutations of αIIbβ3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype
    1
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC3865572/
  113. reader.elsevier.com reader.elsevier.com
    PII: 0049-3848(91)90187-2
    1
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    reader.elsevier.com/reader/sd/pii/0049384891901872
  114. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Perioperative management of Glanzmann's syndrome: how we did it! - PubMed - NCBI
    1
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    ncbi.nlm.nih.gov/pubmed/20182353
  115. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Platelet aggregation induced by the C‐terminal peptide of thrombospondin‐1 requires the docking protein LAT but is largely independent of αIIb/β3
    1
    1. ClingenBaseline 21 Oct 2026
      Platelet aggregation induced by the C‐terminal peptide of thrombospondin‐1 requires the docking protein LAT but is largely independent of αIIb/β3 C. Trumel INSERM, Unité 563, Centre de Physiopathologie Toulouse Purpan, Department of Oncogenesis and Cell Signaling in Hematopoetic Cells, Hôpital Purpan, Toulouse;Search for more papers by this author M. Plantavid INSERM, Unité 563, Centre de Physiopathologie Toulouse Purpan, Department of Oncogenesis and Cell Signaling in Hematopoetic Cells, Hôpital Purpan, Toulouse;Search for more papers by this author S. Lévy‐Tolédano INSERM, Unité 348, Hôpital Lariboisière, Paris;Search for more papers by this author A. Ragab INSERM, Unité 563, Centre de Physiopathologie Toulouse Purpan, Department of Oncogenesis and Cell Signaling in Hematopoetic Cells, Hôpital Purpan, Toulouse;Search for more papers by this author J. P. Caen IVS, Hôpital Lariboisière, Paris; andSearch for more papers by this author E. Aguado Center d'Immunologie de Marseille‐Luminy, INSERM‐CNRS‐University Medical Case 906, Marseille, FranceSearch for more papers by this author B. Malissen Center d'Immunologie de Marseille‐Luminy, INSERM‐CNRS‐University Medical Case 906, Marseille, FranceSearch for more papers by this author B. Payrastre INSERM, Unité 563, Centre de Physiopathologie Toulouse Purpan, Department of Oncogenesis and Cell Signaling in Hematopoetic Cells, Hôpital Purpan, Toulouse;Search for more papers by this author

      PMID: 12871507

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions probands with GT; however, there are no variants in ITGA2B and/or ITGB3, in these probands noted in the article

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    onlinelibrary.wiley.com/doi/full/10.1046/j.1538-7836.2003.00068.x
  116. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identification of compound heterozygous mutations in the ITGA2B gene in a Chinese patient with Glanzmann thrombasthenia. - PubMed - NCBI
    1
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    ncbi.nlm.nih.gov/pubmed/20819594
  117. pdf.sciencedirectassets.com pdf.sciencedirectassets.com
    343_1.tif
    1
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    pdf.sciencedirectassets.com/273549/1-s2.0-S0950353698X80467/1-s2.0-S095035369880053X/main.pdf
  118. www.thieme-connect.com www.thieme-connect.com
    Phosphatidylserine exposure, microparticle formation and mitochondrial depolarisation in Glanzmann thrombasthenia platelets
    1
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    thieme-connect.com/products/ejournals/pdf/10.1160/TH13-08-0704.pdf
  119. link.springer.com link.springer.com
    10.1007/s00277-002-0571-3.pdf
    1
    1. ClingenBaseline 21 Oct 2026
      Osteopetrosis and Glanzmanns thrombasthenia in a child

      PMID: 12707732

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a Glanzmann thrombasthenia patient with osteoporosis; however, the article does not mention specific variants in ITGA2B and/or ITGB3 in the proband. Rather, the discussion mentions other variants in ITGA2B and/or ITGB3 therefore we have insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    link.springer.com/content/pdf/10.1007/s00277-002-0571-3.pdf
  120. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The use of recombinant FVIIa in a patient with Glanzmann thrombasthenia with uncontrolled bleeding after tonsillectomy. - PubMed - NCBI
    1
    1. ClingenBaseline 21 Oct 2026
      The use of recombinant FVIIa in a patient with Glanzmann thrombasthenia with uncontrolled bleeding after tonsillectomy.

      PMID: 19657319

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a patient with GT; however, no variants in ITGA2B and/or ITGB3 mentioned here

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pubmed/19657319
  121. Local file Local file
    Untitled document
    1
    1. ClingenBaseline 21 Oct 2026
      The Role of the Platelet Glycoprotein IIb/IIIa in Thrombosis andHaemostasis

      PMID: 15134555

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention Glanzmann thrombasthenia patients or variants in ITAG2B and/or ITGB3. This article gives more background on the molecular mechanisms of Glanzmann thrombasthenia

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  122. www.thieme-connect.com www.thieme-connect.com
    Alterations of the platelet proteome in type I Glanzmann thrombasthenia caused by different homozygous delG frameshift mutations in ITGA2B
    1
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    thieme-connect.com/products/ejournals/pdf/10.1160/TH16-07-0515.pdf
  123. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Analysis of platelet membrane glycoprotein polymorphisms in Glanzmann thrombasthenia showed the French gypsy mutation in the αIIb gene to be strongly linked to the HPA‐1b polymorphism in β3
    1
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    onlinelibrary.wiley.com/doi/full/10.1046/j.1538-7836.2003.00107.x
  124. Local file Local file
    REV_ISS_WEB_BJH_14283_175-4 686..695
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  125. Local file Local file
    A Variant Form of Thrombasthenia
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