Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease
DHX9 基因(编码 DExH-box 解旋酶 DHX9 的基因)的单等位基因变异是神经发育障碍和腓骨肌萎缩症的根本原因
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2023.06.013
Daniel G Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood, Alina Kurolap, Noa Zunz Henig, Jawid M Fatih, Isabella Herman, Haowei Du, Tadahiro Mitani, Lore Becker, Birgit Rathkolb, Raffaele Gerlini, Claudia Seisenberger, Susan Marschall, Jill V Hunter, Amanda Gerard, Alexis He