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

1
1. ClingenBaseline 27 Oct 2026
  
  in Baseline Annotations
  
  #12
  
  Case12: Male, 15 years onset, 40 years diagnosis
  
  CaseAddInfo: Late-Onset Pompe Disease
  
  Individual CaseInfo ClinVarID:4027 ClinVarID:550028 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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ClinVarID:550028

inferred_gene_hgnc:4065

ClinVarID:4027

Individual

GAA variant

inferred_gene_source:ClinVar

CaseInfo

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ClingenBaseline

URL

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