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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Pompe disease in Austria: clinical, genetic and epidemiological aspects
    1
    1. ClingenBaseline 24 Oct 2026
      in Baseline Annotations
      21

      Case21: 12.5 years onset, 13 years diagnosis, 13 years report

      CasePresentingHPOs: HP:0003236 (Increased serum CK)

      HPOsFreeText: Asymptomatic hyperCKemia

      CaseAddInfo: Late-Onset Pompe Disease, Gender reported as "W"

      Individual CaseInfo CA401365023 ClinVarID:379593 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    Tags

    • inferred_gene_hgnc:4065
    • CA401365023
    • inferred_gene_source:CAID
    • Individual
    • ClinVarID:379593
    • GAA variant
    • CaseInfo

    Annotators

    • ClingenBaseline

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5760608/
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