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    Obscurin paper figures May 2015.key
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    1. ClingenBaseline 24 Oct 2026
      D15

      Case#: D15, male, 43 years

      DiseaseAssertion: FDCM

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: DNA extraction, whole exome sequencing, pyrosequencing, RNA extraction, q-RT-PCR, SDS-PAGE electrophoresis, western blotting and immunofluorescence microscopy

      CaseGenotypingMethod: N/A

      Variant: NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys)

      ClinVar: 43005 https://www.ncbi.nlm.nih.gov/clinvar/variation/43005/

      CAID: N/A

      gnomAD: absent

      Individual CaseInfo inheritancePattern:NoInheritanceAssertion DiseaseEntity:FDCM Mutation:Germline SupplementalData UnregisteredVariant PreviousTesting:Partial PreviousTesting:Additional PreviouslyPublished:26406308 ClinVarID:43005 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation

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