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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Identification of a novel missense mutation in the TPM1 gene via exome sequencing in a Chinese family with dilated cardiomyopathy: A case report and literature review
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    1. ClingenBaseline 02 Nov 2026
      The proband (II-1) was a 40-year-old Chinese Han male born at full term after an uncomplicated pregnancy and delivery.

      Case#: Proband(II-1)

      DiseaseAssertion: DCM1Y

      FamilyInfo: Chinese Han family with DCM phenotypes.

      ParentalTesting: not reported

      CasePresentingHPOs: HP:0001644

      CaseHPOFreeText: Proband diagnosed with dilated cardiomyopathy and found to carry a TPM1 variant.

      CaseNotHPOs: not reported

      CaseNotHPOFreeText: not reported

      CasePreviousTesting: not reported

      Genotyping Method: Next-generation sequencing (NGS), confirmed by Sanger sequencing

      FunctionalAnalysis: none reported

      Variant: TPM1 c.340G>C (p.E114Q) missense variant

      ClinVar: not found

      CAID: CA392721071

      gnomAD:

      AdditionalInfo:

      CAID:CA392721071 OpenAccess Gene:TPM1 inferred_gene_hgnc:12010 inferred_gene_source:CAID Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC8758022/