2 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis
    1
    1. Vibhor 18 Sep 2026
      18 5709 Mi 9 2/10 / 2/10 c.32T>C(1) / c.1804C<T(13) p.Leu11Pro/p.Arg602Thr

      Case#: Maia-Lopes Family 18 Proband 5709, Portuguese, 9yo at onset

      DiseaseAssertion: STGD

      FamilyInfo: Family 18

      CasePresentingHPOs:

      CaseHPOFreeText: mild central fundus changes, vision: 2/10 / 2/10

      CaseNotHPOs:

      CaseNotHPOFreeText:

      GenotypingMethod: ABCR400 microarray, dHPLC

      PreviouslyPublished: n/a

      Variant: c.1804C<T/ c.32T>C(1); p.Arg602Thr/p.Leu11Pro

      ClinVar: 99217

      CAID: CA227106

      SupplementalData: n/a

      CAID:CA227106 ClinVarID: 99217 CaseInfo Individual inferred_gene_hgnc:34 inferred_gene_source:CAID ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC2660377/
  3. Sep 2026
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis
    1
    1. Vibhor 12 Sep 2026
      5137 Mo 25 3/10 / FC ND / c.32T>C(1) ND/p.Leu11Pro

      Case#: Maia-Lopes Family 17 Proband 5137, Portuguese, 25yo at onset

      DiseaseAssertion: STGD

      FamilyInfo: Family 17

      CasePresentingHPOs:

      CaseHPOFreeText: moderate central fundus changes, vision: 3/10 / FC

      CaseNotHPOs:

      CaseNotHPOFreeText:

      GenotypingMethod: ABCR400 microarray, dHPLC

      PreviouslyPublished: n/a

      Variant: ND / c.32T>C(1); ND/p.Leu11Pro

      ClinVar: 99217

      CAID: CA227106

      SupplementalData: n/a

      CaseInfo Individual NoEvidence ClinVarID: 99217 CAID:CA227106 inferred_gene_hgnc:34 inferred_gene_source:CAID ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC2660377/