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De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders

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Description scientific article
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author: Katrin Õunap  Tarmo Annilo  Tiia Reimand  Andres Metspalu  Tiit Nikopensius 

Publication date December 18, 2013
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