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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
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    1. ClingenBaseline 24 Oct 2026
      in Baseline Annotations
      The Full Text of this article is available as a PDF (594K).

      Article is a PDF so unable to annotate in it, but table 2 shows the pts genotypes.

      CaseInfo Individual CA226868 inferred_gene_hgnc:34 inferred_gene_source:CAID UNC Biocuration Core
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    Tags

    • inferred_gene_hgnc:34
    • inferred_gene_source:CAID
    • UNC Biocuration Core
    • Individual
    • CA226868
    • CaseInfo

    Annotators

    • ClingenBaseline

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC1377826/
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