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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Digenic sarcomeric variants in paediatric dilated cardiomyopathy and maternal peripartum cardiomyopathy: a familial case report
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    1. ClingenBaseline 08 Nov 2026
      7-year-old girl

      Case#: Jenni a 7 year-old female

      DiseaseAssertion: Dilated cardiomyopathy with LVNC

      FamilyInfo: MYH7 maternally inherited and MYBPC3 paternally inherited

      ParentalTesting: Mother has PPCM

      CasePresentingHPOs: HP:0004755

      heart failure and supraventicular tachycardia

      CaseHPOFreeText: Intermittent Wolff-Parkinson- White

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CasePreviousTesting: Echocardiogram and MRI

      Genotyping Method: Segregation analysis, targeted next generation sequencing

      FunctionalAnalysis: electrophysiology, transplant evaluation, CT angiography

      Variant: NM_000256.3(MYBPC3):c.2672G>A (p.Arg891Gln)

      ClinVar:177884

      CAID: CA012826

      gnomAD: 11-47357493-C-T

      AdditionalInfo:

      CaseInfo Gene:MYBPC3 HGNC:7551 InheritancePattern:NoInheritanceAssertion DiseaseEntity:DCM Variant:Missense Zygosity:Heterozygous “CAID:CA012826" FunctionalAnalysis MultipleGeneVariants ClinVarID:177884 inferred_gene_hgnc:7551 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC12919360/