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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy
    1
    1. ClingenBaseline 10 Nov 2026
      a 19‐year‐old

      Case1:19 Year-old male

      DiseaseAssertion:HCM

      FamilyInfo:None documented

      ParentalTesting:

      CasePresentingHPOs:HP:0001639

      CaseHPOFreeText:Hypertrophic Cardiomyopathy

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CasePreviousTesting:

      Genotyping Method:Next Generation Sequencing

      FunctionalAnalysis:

      Variant:c.442G>A, (p.Gly148Arg)

      ClinVar:42752

      CAID: CA015105

      gnomAD:NR

      AdditionalInfo:NR

      CAID: CA015105 Variant: c.442G>A, (p.Gly148Arg) inferred_gene_hgnc:7551 inferred_gene_source:CAID Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC6687666/