patient LM
Case1: Patient LM --very minimal info on this patient
DiseaseAssertion: Glanzmann thrombasthenia
FamilyInfo: N/A
ParentalGenotype: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOsFreeText: N/A
ProteinExpression: αIIbβ3 expression
PlateletAggregation: N/A
CasePreviousTesting: N/A
Gene: ITGA2B
Variant: NM_000419.3:c.1346G>A (p.Gly449Asp)
LegacyVariant: Gly418Asp
ClinVar: N/A
CAiD: CA399803552
gnomAD: N/A
Glanzmann patient (LM
Case1: (Patient LM) Gender, age, and ethnicity not specified
DiseaseAssertion: Glanzmann thrombasthenia
FamilyInfo: N/A
ParentalGenotype: N/A (Immunoblot analysis of parents is the only thing available)
CasePresentingHPOs: N/A
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
ProteinExpression: Immunoblot analysis was performed see Fig 1
PlateletAggregation: N/A
CasePreviousTesting: Sequence analysis of PCR amplified GPIIIb mRNA
Gene: ITGA2B
Variant: NM_000419.3:c.1346G>A (p.Gly449Asp)
LegacyVariant: (p.Gly418Asp)
ClinVar: 691627
CAiD: CA399803552
gnomAD: N/A
9LMIHomozygote1346G
Case9: Patient LM (can be found in the GT database) gender and age are not specified
DiseaseAssertion: Glanzmann thrombasthenia
FamilyInfo: N/A
ParentalGenotype: N/A
CasePresentingHPOs: N/A Not reported for this proband
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOsFreeText: N/A
ProteinExpression: Undetectable for this patient
PlateletAggregation: N/A
CasePreviousTesting: N/A
Gene: ITGA2B
Variant: NM_000419.3:c.1346G>A (p.Gly449Asp)
LegacyVariant: N/A
ClinVar: N/A
CAiD: CA399803552
gnomAD: N/A
PreviouslyPublished: Reference number 20 in this article