Activity
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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. |
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| 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) |
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