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    Obscurin paper figures May 2015.key
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    1. ClingenBaseline 23 Oct 2026
      D26

      Case#: D26, female, 54 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.4828G>C (p.Glu1610Gln)

      ClinVar: 181267 https://www.ncbi.nlm.nih.gov/clinvar/variation/181267/

      CAID: N/A

      gnomAD: absent

      Individual CaseInfo inheritancePattern:NoInheritanceAssertion DiseaseEntity:FDCM Mutation:Germline SupplementalData PreviousTesting:Additional PreviousTesting:Partial PreviouslyPublished:14680977 ClinVarID:181267 inferred_gene_hgnc:6547 inferred_gene_source:ClinVar Cardiomyopathy Annotation

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