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    LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population
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    1. ClingenBaseline 23 Oct 2026
      13

      Case#: Patient 13, female

      CasePresentingHPOs: HP:0003236, HP:0003325

      CaseAddInfo: 28yo at onset, 48yo at diagnosis

      VariantAllele1: NM_000152.4(GAA):c.-32-13T>G

      ClinVar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      VariantAllele2: NM_000152.4(GAA):c.2189+1G>T

      ClinVar: 558223, https://www.ncbi.nlm.nih.gov/clinvar/variation/558223/

      gnomAD: n/a

      Individual CaseInfo ClinVarID:4027 ClinVarID:558223 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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