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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 24 Oct 2026
      PD24

      Patient24: Female, Northern China

      CasePresentingHPOs:

      HPOsFreeText: IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: c.1151 + 2T > G no ClinVar or CAID, intronic position inside exon

      Variant2: NM_000152.3:c.1562A>T

      CAID: CA401367205, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA401367205

      gnomAD: 0.000003980, http://gnomad.broadinstitute.org/variant/17-78084750-A-T

      Individual CaseInfo Variant CA401367205 UnregisteredVariant inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    liebertpub.com/doi/full/10.1089/gtmb.2016.0424