De novo missense variants in CHTF18: The potential to expand the clinical spectrum of cohesinopathies
CHTF18 中的新生错义变异:可能扩大黏连蛋白病的临床谱
期刊:HGG Advances
影响因子:3.6
doi:10.1016/j.xhgg.2025.100485
Aref-Eshghi, Erfan; Wentzensen, Ingrid M; Ben-Omran, Tawfeg; Bux, Reem Ibrahim; Gold, Nina B; McRoy, Erin; Nguyen, Hoanh; O'Grady, Lauren; Tu, Shao Ching; Chen, Yanmin; Folk, Leandra; McGivern, Bobbi