De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

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Description scientific journal article
Author/s

author: Jos Draaisma  Serge Romana  Marlene Rio  Servi Jc Stevens  Axel Neu  Ssang-Taek Lim  Joris A Veltman  Christopher T Gordon  Clesson E Turner  Han G. Brunner  Margot R F Reijnders  Helger G Yntema  Eun-Young Ahn  J Nicolai  Tim M Strom  Alexander P Stegmann  Bert B A de Vries  Lisenka Vissers  University of Washington Center for Mendelian Genomics  Davor Lessel 

Publication date September 1, 2016
Language English
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