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A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy
Atsushi Ishii, Jing-Qiong Kang, Cara C Schornak, Ciria C Hernandez, Wangzhen Shen, Joseph C Watkins, Robert L Macdonald, Shinichi Hirose

Journal of Medical Genetics Mar 2017, 54 (3) 202-211; DOI: 10.1136/jmedgenet-2016-104083

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