Hypothesis

2 Matching Annotations

Last 7 days
link.springer.com link.springer.com

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

2
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
2. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  #16
  
  Case16: Female, 9 years onset, 11 years diagnosis
  
  CaseAddInfo: Late-Onset Pompe Disease
  
  Individual CaseInfo ClinVarID:456370 CA8815477 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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Tags

inferred_gene_source:CAID

GAA variant

Individual

CA8815477

ClinVarID:456370

inferred_gene_hgnc:4065

CA401369524

ClinVarID:4027

CaseInfo

Annotators

ClingenBaseline

URL

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