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