Expanding the clinical and molecular spectrum of TUBB2B through distinct variants identified across multiple families.

Authors: Beheshti ST, Jolly A, Saad AK, Du H, Westerfield LE, Munderloh C, Kalra D, Wu Y, Chen Y, Gingras MC, Jhangiani SN, Yilmaz S, Zaki MS, Calame DG, Pehlivan D, Gibbs RA, Lewis RA, Lupski JR, Posey JE

Journal: HGG advances