A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis
NF1基因中一种破坏剪接的新型同义变异与神经纤维瘤病的发病机制有关。
期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2025.1572487
Lin, Tao; Chen, Zheyan; Dong, Biwen; Pan, Haojie; Wang, Hai; Zheng, Xianjue; Chen, Kaixin; Lai, Yanan; Zhang, Chenhui; Dong, Ye; Xu, Zitong; Lin, Menmen; Xi, Xiujie; Xia, Shuqi; Wang, Yimin; Wang, Wenhan; Li, Xiaoqing; Sun, Congcong; Hu, Yanjun; Xu, Fang; Zheng, Jianqiong; Jin, Fan; Zhang, Hongping; Zheng, Jiayong