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

First Author  García-Cazorla A Year  2014
Journal  Hum Mutat Volume  35
Pages  470-7 PubMed ID  24449431
Issue  4
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23 Authors

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