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Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in <i>SCN1A</i>.
Authors
Stephen Abbs
Gianpiero Cavalleri
+34 more
Berten Ceulemans
Mark Diekhans
Stephen Fitzgerald
Paul Flicek
Adam Frankish
Jose M Gonzalez
Detelina Grozeva
Roderic Guigó
Fadi F Hamdan
Jennifer Harrow
Peter De Jonghe
Don Keiller
Nicholas J Lench
Anne Lepine
Patricia Leroy
F Lucy Raymond
Berge A Minassian
Jonathan M Mudge
Caroline Nava
Dmitri Pervouchine
Slavé Petrovski
Robert Petryszak
Anthony S Rogers
Jolien Roovers
Alba Sanchis-Juan
Sanjay M Sisodiya
Hannah Stamberger
Charles A Steward
Marie-Marthe Suner
Electra Tapanari
Barbara Uszczynska-Ratajczak
Margarida Viola
Dimitrios Vitsios
Sarah Weckhuysen
Publication date
1 January 2019
Publisher
NPJ genomic medicine
Doi
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Abstract
Abstract is not available.
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Sustaining member
Apollo (Cambridge)
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oai:www.repository.cam.ac.uk:1...
Last time updated on 05/02/2020