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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
  
  #21
  
  Case21: Female, 5 years onset, 5 years diagnosis
  
  CaseAddInfo: Late-Onset Pompe Disease
  
  Individual CaseInfo ClinVarID:188728 ClinVarID:557292 inferred_gene_hgnc:11167 inferred_gene_source:ClinVar GAA variant
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CaseInfo

ClinVarID:557292

inferred_gene_source:ClinVar

GAA variant

ClinVarID:188728

Individual

inferred_gene_hgnc:11167

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ClingenBaseline

URL

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