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García-Cazorla, A., Oyarzabal, A., Fort, J., Robles, C., Castejón, E., Ruiz-Sala, P. and Agulló, S.B. (2014) Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients. Human Mutation, 35, 470-477.
http://dx.doi.org/10.1002/humu.22513

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