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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan

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1. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  9
  
  Patient9: Male, <1 year onset
  
  CaseAddInfo: LOPD
  
  Individual CaseInfo CA8815481 CA401325549 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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CA8815481

CA401325549

inferred_gene_source:CAID

Individual

GAA variant

inferred_gene_hgnc:4065

CaseInfo

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ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5671405/