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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
  
  e
  
  CaseD: 17 years onset
  
  CaseAddInfo: Late-Onset Pompe Disease
  
  Individual CaseInfo CA401367166 ClinVarID:4024 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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inferred_gene_source:CAID

CA401367166

Individual

CaseInfo

ClinVarID:4024

inferred_gene_hgnc:4065

GAA variant

Annotators

ClingenBaseline

URL

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