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    Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations | Genetic Testing and Molecular Biomarkers
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    1. ClingenBaseline 23 Oct 2026
      PD13

      Patient13: Female, Northern China

      CasePresentingHPOs:

      HPOsFreeText: IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1802C>T (p.Ser601Leu)

      ClinVar: 194154, https://www.ncbi.nlm.nih.gov/clinvar/variation/194154/

      gnomAD: n/a

      Variant2: NM_000152.3:c.2411G>A

      CAID: CA401325125, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA401325125

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:194154 CA401325125 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    liebertpub.com/doi/full/10.1089/gtmb.2016.0424