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Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A
Charles A. Steward, Jolien Roovers, Marie-Marthe Suner, Jose M. Gonzalez, Barbara Uszczynska-Ratajczak, Dmitri Pervouchine, Stephen Fitzgerald, Margarida Viola, Hannah Stamberger, Fadi F. Hamdan, Berten Ceulemans, Patricia Leroy, Caroline Nava, Anne Lepine, Electra Tapanari, Don Keiller, Stephen Abbs, Alba Sanchis-Juan, Detelina Grozeva, Anthony S. Rogers, Mark Diekhans, Roderic Guigó, Robert Petryszak, Berge A. Minassian, Gianpiero Cavalleri, Dimitrios Vitsios, Slavé Petrovski, Jennifer Harrow, Paul Flicek, F. Lucy Raymond, Nicholas J. Lench, Peter De Jonghe, Jonathan M. Mudge, Sarah Weckhuysen, Sanjay M. Sisodiya, Adam Frankish
Dec 01, 2020
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A
Charles A. Steward, Jolien Roovers, Marie-Marthe Suner, Jose M. Gonzalez, Barbara Uszczynska-Ratajczak, Dmitri Pervouchine, Stephen Fitzgerald, Margarida Viola, Hannah Stamberger, Fadi F. Hamdan, Berten Ceulemans, Patricia Leroy, Caroline Nava, Anne Lepine, Electra Tapanari, Don Keiller, Stephen Abbs, Alba Sanchis-Juan, Detelina Grozeva, Anthony S. Rogers, Mark Diekhans, Roderic Guigó, Robert Petryszak, Berge A. Minassian, Gianpiero Cavalleri, Dimitrios Vitsios, Slavé Petrovski, Jennifer Harrow, Paul Flicek, F. Lucy Raymond, Nicholas J. Lench, Peter De Jonghe, Jonathan M. Mudge, Sarah Weckhuysen, Sanjay M. Sisodiya, Adam Frankish
Nov 03, 2020