De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
作者信息
Lessel Davor, Schob Claudia, Küry Sébastien, Reijnders Margot R F, Harel Tamar, Eldomery Mohammad K, Coban-Akdemir Zeynep, Denecke Jonas, Edvardson Shimon, Colin Estelle, Stegmann Alexander P A, Gerkes Erica H, Tessarech Marine, Bonneau Dominique, Barth Magalie, Besnard Thomas, Cogné Benjamin, Revah-Politi Anya, Strom Tim M, Rosenfeld Jill A, Yang Yaping, Posey Jennifer E, Immken LaDonna, Oundjian Nelly, Helbig Katherine L, Meeks Naomi, Zegar Kelsey, Morton Jenny, Schieving Jolanda H, Claasen Ana, Huentelman Matthew, Narayanan Vinodh, Ramsey Keri, Brunner Han G, Elpeleg Orly, Mercier Sandra, Bézieau Stéphane, Kubisch Christian, Kleefstra Tjitske, Kindler Stefan, Lupski James R, Kreienkamp Hans-Jürgen
出版信息
Am J Hum Genet. 2018 Jan 4;102(1):196. doi: 10.1016/j.ajhg.2017.12.016.
Abstract
摘要
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