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1 Matching Annotations
  1. Oct 2026
  2. www.proquest.com www.proquest.com
    Different Patterns of Fundus Autofluorescence Related to ABCA4 Gene Mutations in Stargardt Disease - ProQuest
    1
    1. ClingenBaseline 21 Oct 2026
      in Baseline Annotations
      Patient 15 showed a complex allele with two mild mutations (missense mutations T790P and F1051I) and one severe mutation (stop mutation Q21X).

      Variant is in trans with a complex allele

      CaseInfo Individual CA958970 inferred_gene_hgnc:34 inferred_gene_source:CAID UNC Biocuration Core
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    Tags

    • UNC Biocuration Core
    • inferred_gene_hgnc:34
    • CaseInfo
    • inferred_gene_source:CAID
    • Individual
    • CA958970

    Annotators

    • ClingenBaseline

    URL

    proquest.com/docview/215681987
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Hypothes.is
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