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Likely inborn error of metabolism - targeted testing not possible v0.4 | BCKDK |
Ellen McDonagh gene: BCKDK was added gene: BCKDK was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCKDK were set to 27604308; 22956686 Phenotypes for gene: BCKDK were set to Branched-chain ketoacid dehydrogenase kinase deficiency |