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  1. Last 7 days
  2. www.liebertpub.com www.liebertpub.com
    Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations | Genetic Testing and Molecular Biomarkers
    1
    1. ClingenBaseline 24 Oct 2026
      PD18

      Patient18: Male, Northern China

      CasePresentingHPOs:

      HPOsFreeText: IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001721, http://exac.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.4(GAA):c.796C>T (p.Pro266Ser)

      ClinVar: 556117, https://www.ncbi.nlm.nih.gov/clinvar/variation/556117/

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:4029 ClinVarID:556117 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    liebertpub.com/doi/full/10.1089/gtmb.2016.0424
  3. 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
    2
    2. ClingenBaseline 22 Oct 2026
      22

      Patient22: Male, 30 years report, 23 year onset

      CasePresentingHPOs: HP:0001324, HP:0002098 (Muscle weakness, Respiratory distress)

      HPOsFreeText: GAA activity 1.1% from leukocyte, Wheelchair needed

      CaseNotHPOs: HP:0001640, HP:0002240 (Cardiomegaly, Hepatomegaly)

      NotHPOsFreeText: Respiratory Assistance not needed

      CaseAddInfo: LOPD

      Individual CaseInfo ClinVarID:370637 ClinVarID:556117 inferred_gene_hgnc:11273 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5671405/