Varaico: Literature-Extracted Genetic Variants

Gene:BCKDK
Variant:p.R174_E181delFs
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BCKDK

NM_005881.4:p.R174_E181delFs

Associated Papers

Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.

García-Cazorla A et al.

Human Mutation, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."