High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders
导致癫痫相关神经发育障碍的基因中嵌合致病变异的发生频率很高
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/gim.2017.114
Stosser, Mary Beth; Lindy, Amanda S; Butler, Elizabeth; Retterer, Kyle; Piccirillo-Stosser, Caitlin M; Richard, Gabriele; McKnight, Dianalee A
