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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Phenotype/genotype correlation in a case series of Stargardt's patients identifies novel mutations in the ABCA4 gene
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    1. Vibhor 26 Jul 2026
      Case 2

      Case#:2, 29-year-old woman

      DiseaseAssertion:NR

      FamilyInfo:NR

      CasePresentingHPOs:

      CaseHPOFreeText:decreased ability to focus, increasing difficulty to adapt in the dark, normal visual acuity in both eyes (logMar BCVA OD/OS: 0.02), PERG responses were diminished in both eyes.

      CaseNotHPOs:

      CaseNotHPOFreeText:

      Genotyping Method: ”Analysis of the ABCA4 gene”

      PreviouslyPublished:No

      Variant:NM_000350.3:c.1805G>A, NM_000350.3:c.6079C>T

      ClinVar: 99085, 7882

      CAID:CA226933, CA119129

      SupplementalData:

      MultipleGeneVariants DecreasedERGResponses ClinVarID:99085 CAID:CA226933 ClinVarID:7882 CAID:CA119129 automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC3831132/