Hypothesis

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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

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  34
  
  Patient34: Male, 13 years report, 16 months onset
  
  CasePresentingHPOs: HP:0002527, HP:0001640 (Falls, Cardiomegaly)
  
  HPOsFreeText: N/A
  
  CaseNotHPOs: HP:0002240 (Hepatomegaly)
  
  NotHPOsFreeText: N/A
  
  CaseAddInfo: LOPD
  
  Individual CaseInfo CA401359804 ClinVarID:189144 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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Tags

inferred_gene_source:CAID

ClinVarID:189144

Individual

CA401359804

GAA variant

inferred_gene_hgnc:4065

CaseInfo

Annotators

ClingenBaseline

URL

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