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. Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A). HUMAN MUTATION (2020) PubMed