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    Structural and Biochemical Basis for Novel Mutations in Homozygous Israeli Maple Syrup Urine Disease Patients A PROPOSED MECHANISM FOR THE THIAMIN-RESPONSIVE PHENOTYPE
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    1. ClingenBaseline 22 Oct 2026
      in Baseline Annotations
      Structural and Biochemical Basis for Novel Mutations in Homozygous Israeli Maple Syrup Urine Disease Patients

      PMID: 14742428

      Gene: BCKDHB

      Disease: MSUD, type 1a

      MonDO: MONDO:0023691

      InheritancePattern: AR

      bckdhb ClinGen General inferred_gene_hgnc:987 inferred_gene_source:Gene_Name ClinGen Aminoacidopathy
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    Tags

    • ClinGen Aminoacidopathy
    • inferred_gene_source:Gene_Name
    • General
    • bckdhb
    • inferred_gene_hgnc:987
    • ClinGen

    Annotators

    • ClingenBaseline

    URL

    jbc.org/content/279/17/17792.long
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