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De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

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Description scientific article (publication date: 9 March 2012)
Author/s

author: Xiaoyang Cheng  Stephen G Waxman  Krishna R Veeramah  Linda Restifo  Sulayman D Dib-Hajj  Evan E. Eichler  Santhosh Girirajan 

Publication date March 9, 2012
Language English
Country of origin
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http://www.cell.com/article/S0002929712000389/pdf

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