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1 Matching Annotations
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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization
    1
    1. ClingenBaseline 22 Oct 2026
      in Baseline Annotations
      p.Glu769Lys

      CaseF10:III-1: Italy

      CasePresentingHPOs: N/A

      CaseAddInfo: Proband for F10

      Individual CaseInfo CA390181460 inferred_gene_hgnc:163 inferred_gene_source:CAID UNC Biocuration Core
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    Tags

    • CA390181460
    • inferred_gene_hgnc:163
    • inferred_gene_source:CAID
    • UNC Biocuration Core
    • Individual
    • CaseInfo

    Annotators

    • ClingenBaseline

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4311232/
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