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