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

1
1. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  #17
  
  Case17: Male, 11 years onset, 15 years diagnosis
  
  CaseAddInfo: Late-Onset Pompe Disease
  
  Individual CaseInfo ClinVarID:526532 ClinVarID:4021 inferred_gene_hgnc:11782 inferred_gene_source:ClinVar GAA variant
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Tags

inferred_gene_source:ClinVar

inferred_gene_hgnc:11782

CaseInfo

Individual

GAA variant

ClinVarID:4021

ClinVarID:526532

Annotators

ClingenBaseline

URL

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