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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutations in the Dimer Interface of Dihydrolipoamide Dehydrogenase Promote Site-specific Oxidative Damages in Yeast and Human Cells
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    1. ClingenBaseline 23 Oct 2026
      in Baseline Annotations
      Mutations in the Dimer Interface of Dihydrolipoamide Dehydrogenase Promote Site-specific Oxidative Damages in Yeast and Human Cells

      PMID: 21930696

      Gene: DLD

      Disease: Pyruvate dehydrogenase E3 deficiency

      MonDO: MONDO:0009529

      InheritancePattern: Autosomal recessive

      ClinGen General DLD VariantEvidence inferred_gene_hgnc:2898 inferred_gene_source:Gene_Name ClinGen Aminoacidopathy
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    Tags

    • inferred_gene_hgnc:2898
    • DLD
    • General
    • ClinGen Aminoacidopathy
    • inferred_gene_source:Gene_Name
    • ClinGen
    • VariantEvidence

    Annotators

    • ClingenBaseline

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC3220568/
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