A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability
SOX5基因中的一个错义变异(c.221C>T)与智力障碍有关
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-03548-z
Yang, Xiujuan; Gan, Zhongzhi; Guo, Xiaoling; Huang, Xiang; Liu, Juan; Zheng, Yingchun; Zhou, Xiaoqiang; Lian, Jingli; Liu, Yue; Yang, Tingting; Li, Chao; Chen, Fenying; He, Fei; Xu, Xiangmin; Zhou, Yasi; Liu, Qian; Yang, Xingkun; Xiong, Fu