Genetic analysis of a novel TSC1 splice mutation causing tuberous sclerosis without neurological phenotypes
对一种导致无神经系统表型的结节性硬化症的新型TSC1剪接突变进行基因分析
期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-025-07906-6
Yao, Xiu-Juan; Lin, Ying; Zou, Jing; Cai, Zun-Lin; Xu, Zi-Yan; Li, Xiao-Qin; Chen, Qian; Yu, Hong-Ping; Zhang, Jian-Hui; Ruan, Dan-Dan; Gao, Mei-Zhu; Zhang, Li; Luo, Jie-Wei; Xie, Bao-Song