A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy
常染色体隐性遗传的儿童神经发育异常和癫痫中的致病性 UFSP2 变异
期刊:Genetics in Medicine
影响因子:6.6
doi:10.1038/s41436-020-01071-z
Min Ni, Bushra Afroze, Chao Xing, Chunxiao Pan, Yanqiu Shao, Ling Cai, Brandi L Cantarel, Jimin Pei, Nick V Grishin, Stacy Hewson, Devon Knight, Sonal Mahida, Donnice Michel, Mark Tarnopolsky, Annapurna Poduri, Alexander Rotenberg, Neal Sondheimer, Ralph J DeBerardinis