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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
      b

      CaseB: 40 years onset

      CaseAddInfo: Late-Onset Pompe Disease

      Individual CaseInfo ClinVarID:4027 ClinVarID:370146 inferred_gene_hgnc:9069 inferred_gene_source:ClinVar GAA variant
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    Tags

    • ClinVarID:370146
    • ClinVarID:4027
    • Individual
    • GAA variant
    • inferred_gene_hgnc:9069
    • inferred_gene_source:ClinVar
    • CaseInfo

    Annotators

    • ClingenBaseline

    URL

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