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Likely inborn error of metabolism v1.47 BCKDHB Ivone Leong Source NHS GMS was added to BCKDHB.
Source London North GLH was added to BCKDHB.
Likely inborn error of metabolism v0.4 BCKDHB Ellen McDonagh gene: BCKDHB was added
gene: BCKDHB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCKDHB were set to 27604308
Phenotypes for gene: BCKDHB were set to Maple syrup urine disease, type Ib; BCKD E1 beta subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria)