Novel heterozygous missense variants in the TOE1 gene linked to pontocerebellar hypoplasia type 7
TOE1基因中与7型脑桥小脑发育不全相关的新型杂合错义变异
期刊:Genes and Diseases
影响因子:
doi:10.1016/j.gendis.2024.101290
Yang, Aijun; Kong, Xiaoli; Wang, Qin; Miao, Runqing; Ma, Haixiang; Chu, Anzhuo; Wang, Zhengtong; Lu, Jiaqing; Liu, Bo; Mu, Bingcheng; Guo, Runhan; Li, Jiayi; Gongye, Xiaoxiao; Xiong, Huabao; Zhong, Tao