Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)
驱动蛋白家族成员 1A (KIF1A) 中新生错义变异的表型谱扩展
期刊:Human Mutation
影响因子:3.3
doi:10.1002/humu.24079
Simranpreet Kaur, Nicole J Van Bergen, Kristen J Verhey, Cameron J Nowell, Breane Budaitis, Yang Yue, Carolyn Ellaway, Nicola Brunetti-Pierri, Gerarda Cappuccio, Irene Bruno, Lia Boyle, Vincenzo Nigro, Annalaura Torella, Tony Roscioli, Mark J Cowley, Sean Massey, Rhea Sonawane, Matthew D Burton, Bit
