Candidate variants in TUB are associated with familial tremor.
Sailani MR, Jahanbani F, Abbott CW, Lee H, Zia A, Rego S, Winkelmann J, Hopfner F, Khan TN, Katsanis N, Müller SH, Berg D, Lyman KM, Mychajliw C, Deuschl G, Bernstein JA, Kuhlenbäumer G, Snyder MP.
Sailani MR, et al.
PLoS Genet. 2020 Sep 21;16(9):e1009010. doi: 10.1371/journal.pgen.1009010. eCollection 2020 Sep.
PLoS Genet. 2020.
PMID: 32956375
Free PMC article.
Subsequent targeted re-sequencing of TUB in 820 unrelated individuals with sporadic ET and 630 controls revealed significant enrichment of rare nonsynonymous TUB variants (e.g. rs75594955: p.V431I, rs1241709665: p.Ile20Phe, rs55648406: p.Arg49Gln) in the ET cohort (SKAT-O test p- …
Subsequent targeted re-sequencing of TUB in 820 unrelated individuals with sporadic ET and 630 controls revealed significant enrichment of r …