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    Novel GAA mutations in patients with Pompe disease
    1
    1. ClingenBaseline 24 Oct 2026
      6/a

      Case#: 5/a, age 29, no age of report

      DiseaseAssertion: N/A

      FamilyInfo: Family 6, no further information

      CasePresenting HPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: Family Screening

      Variants:

      Variant 1: NM_000152.5:c.1921C>G

      ClinVar: N/A

      CAID: CA401369888

      Variant 2:NM_000152.5(GAA):c.-32-13T>G

      ClinVar: 4027

      ParentalGenotypes: N/A

      PreviouslyPublished: N/A

      Individual CaseInfo Gene:GAA PreviousTesting:GAAAnalysis Zygosity:Heterozygous ClinvarID:4027 CAID:CA401369888 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    sciencedirect.com/science/article/pii/S0378111915001584