Pathogenic variants that alter protein code often disrupt splicing.
改变蛋白质编码的致病性变异通常会破坏剪接
期刊:Nature Genetics
影响因子:29
doi:10.1038/ng.3837
Soemedi Rachel, Cygan Kamil J, Rhine Christy L, Wang Jing, Bulacan Charlston, Yang John, Bayrak-Toydemir Pinar, McDonald Jamie, Fairbrother William G
