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Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

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Description scientific article published on 02 December 2019
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author: Roderic Guigó i Serra  Jonathan M Mudge  Mark Diekhans  Jennifer Harrow  Adam Frankish  Sanjay M Sisodiya  Dimitrios M Vitsios  Marie-Marthe Suner  Barbara Uszczyńska-Ratajczak  Charles A. Steward  Margarida Viola  Dmitri D Pervouchine  Sarah Weckhuysen  Paul Flicek  Jose M Gonzalez 

Publication date December 2, 2019
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