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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort
    1
    1. ClingenBaseline 09 Nov 2026
      EO4 MYBPC3 23 c.2309-2A>G SPLICING

      Case#: E04

      DiseaseAssertion: Early onset hypertrophic cardiomyopathy

      FamilyInfo: Familiarity case reported as "yes"

      ParentalTesting: Not reported

      CasePresentingHPOs: HP:0001639

      CaseHPOFreeText: Not reported

      CaseNotHPOs: Not reported

      CaseNotHPOFreeText: Not reported

      CasePreviousTesting: Not reported

      Genotyping Method: Next Gen Sequencing

      FunctionalAnalysis: Not reported

      Variant: c.2309-2A>G

      ClinVar: Not found

      CAID: Not found

      gnomAD: 11-47337796-T-C

      AdditionalInfo: known pathogenic. allele coverage: 186.

      Gene:MYBPC3 InheritancePattern:AutosomalDominant Variant:Splicing Zygosity:Heterozygous DiseaseEntity:HCM HGNCID:7551 inferred_gene_hgnc:7551 inferred_gene_source:HGNC_body Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC5000637/