Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).
Kaur S, Van Bergen NJ, Verhey KJ, Nowell CJ, Budaitis B, Yue Y, Ellaway C, Brunetti-Pierri N, Cappuccio G, Bruno I, Boyle L, Nigro V, Torella A, Roscioli T, Cowley MJ, Massey S, Sonawane R, Burton MD, Schonewolf-Greulich B, Tümer Z, Chung WK, Gold WA, Christodoulou J.
Kaur S, et al. Among authors: yue y.
Hum Mutat. 2020 Oct;41(10):1761-1774. doi: 10.1002/humu.24079. Epub 2020 Jul 22.
Hum Mutat. 2020.
PMID: 32652677
Free PMC article.