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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
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    1. ClingenBaseline 22 Oct 2026
      in Baseline Annotations
      41436_2018_420_MOESM1_ESM.xlsx (5

      genotype phenotype information for probands

      CA958928 CaseInfo Individual CA226874 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
    • CA958928
    • Individual
    • CA226874

    Annotators

    • ClingenBaseline

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6752479/
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