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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 24 Oct 2026
      12

      Case#: Patient 12, male

      CasePresentingHPOs: HP:0003236

      CaseAddInfo: 42yo at onset, 46yo 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.1438-2A>G

      ClinVar: 526521, https://www.ncbi.nlm.nih.gov/clinvar/variation/526521/

      gnomAD: n/a

      Individual CaseInfo ClinVarID:4027 ClinVarID:526521 inferred_gene_hgnc:24526 inferred_gene_source:ClinVar GAA variant
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