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  2. link.springer.com link.springer.com
    Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study
    1
    1. ClingenBaseline 21 Oct 2026
      in Baseline Annotations
      a

      CaseA2: 31 years onset

      CaseAddInfo: Late-Onset Pompe Disease, Sibling of A1

      Individual CaseInfo ClinVarID:371662 CA401367121 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    Tags

    • ClinVarID:371662
    • CA401367121
    • CaseInfo
    • inferred_gene_source:CAID
    • inferred_gene_hgnc:4065
    • Individual
    • GAA variant

    Annotators

    • ClingenBaseline

    URL

    link.springer.com/article/10.1007/s10545-018-0243-7
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