A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation
SLC9A7基因中一种复发性错义变异会导致非综合征型X连锁智力障碍，并伴有高尔基体酸化异常和糖基化异常。
期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddy371
Khayat, Wujood; Hackett, Anna; Shaw, Marie; Ilie, Alina; Dudding-Byth, Tracy; Kalscheuer, Vera M; Christie, Louise; Corbett, Mark A; Juusola, Jane; Friend, Kathryn L; Kirmse, Brian M; Gecz, Jozef; Field, Michael; Orlowski, John
