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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants
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    1. ClingenBaseline 21 Oct 2026
      2

      Case#: Patient 2

      DiseaseAssertion: Pompe Disease

      FamilyInfo: None given

      CasePresentingHPOs: None

      CaseHPOFreeText: None

      CaseNotHPOs: None

      CaseNotHPOFreeText: None

      CasePreviousTesting: Single gene sequencing with Ion Torrent Persional Genome Machine

      Glucosidase activity: 0.0 nmol 5MU/hr/mL

      Variant 1: NM_000152.5:c.596A>G

      Variant 1 ClinVarID: 92486

      Variant 1 CAid: CA145785

      Variant 2: NM_000152.5:c.668G>A

      Variant 2 ClinVarID: 92488

      Variant 2 CAid: CA145791

      ParentalGenotype: Not provided

      CaseInfo ClinVarID:92486 CAid:145785 ClinVarID:92488 CAid:CA145791 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC8100401/