De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
WASF1 基因新生截断突变导致智力障碍和癫痫发作
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.06.001
Yoko Ito, Keren J Carss, Sofia T Duarte, Taila Hartley, Boris Keren, Manju A Kurian, Isabelle Marey, Perinne Charles, Carla Mendonça, Caroline Nava, Rolph Pfundt, Alba Sanchis-Juan, Hans van Bokhoven, Anthony van Essen, Conny van Ravenswaaij-Arts; NIHR BioResource; Care4Rare Canada Consortium; Kym M