Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization
STUB1 杂合错义变异会导致共济失调、认知能力下降和 STUB1 定位异常。
期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000000397
Chen, Dong-Hui; Latimer, Caitlin; Yagi, Mayumi; Ndugga-Kabuye, Mesaki Kenneth; Heigham, Elyana; Jayadev, Suman; Meabon, James S; Gomez, Christopher M; Keene, C Dirk; Cook, David G; Raskind, Wendy H; Bird, Thomas D
