Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
DOT1L 中罕见的新生获得功能错义变异与发育迟缓和先天性异常有关
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2023.09.009
Zelha Nil, Ashish R Deshwar, Yan Huang, Scott Barish, Xi Zhang, Sanaa Choufani, Polona Le Quesne Stabej, Ian Hayes, Patrick Yap, Chad Haldeman-Englert, Carolyn Wilson, Trine Prescott, Kristian Tveten, Arve Vøllo, Devon Haynes, Patricia G Wheeler, Jessica Zon, Cheryl Cytrynbaum, Rebekah Jobling, Moir
