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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Childhood Pompe disease: clinical spectrum and genotype in 31 patients
    1
    1. ClingenBaseline 21 Oct 2026
      in Baseline Annotations
      2

      Case2: Female, Birth diagnosis, 0.8 yr onset

      HPOsFreeText: 258 CK U/l, Deficient GAA activity (nmol/h/mg)^h from cultured fibroblasts

      NotHPOsFreeText: No wheelchair used, no respiratory support

      Individual CaseInfo ClinVarID:4027 CA401370560 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    Tags

    • inferred_gene_hgnc:4065
    • CA401370560
    • CaseInfo
    • inferred_gene_source:CAID
    • GAA variant
    • ClinVarID:4027
    • Individual

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    • ClingenBaseline

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4870771/
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