Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization.
Chen DH, Latimer C, Yagi M, Ndugga-Kabuye MK, Heigham E, Jayadev S, Meabon JS, Gomez CM, Keene CD, Cook DG, Raskind WH, Bird TD.
Chen DH, et al. Among authors: bird td.
Neurol Genet. 2020 Feb 10;6(2):1-13. doi: 10.1212/NXG.0000000000000397. eCollection 2020 Apr.
Neurol Genet. 2020.
PMID: 32211513
Free PMC article.