Hypothesis

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Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study

1
1. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  l
  
  CaseC: 50 years onset
  
  CaseAddInfo: Late-Onset Pompe Disease
  
  Individual CaseInfo ClinVarID:4027 ClinVarID:456370 CA401369524 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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CaseInfo

ClinVarID:456370

inferred_gene_hgnc:4065

ClinVarID:4027

GAA variant

Individual

CA401369524

inferred_gene_source:CAID

Annotators

ClingenBaseline

URL

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