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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 22 Oct 2026
      in Baseline Annotations
      #10

      Case10: Male, 14 years onset, 37 years diagnosis

      CaseAddInfo: Late-Onset Pompe Disease

      Individual CaseInfo ClinVarID:4027 CA891862609 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    Tags

    • CaseInfo
    • inferred_gene_source:CAID
    • CA891862609
    • inferred_gene_hgnc:4065
    • Individual
    • GAA variant
    • ClinVarID:4027

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    • ClingenBaseline

    URL

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