Novel MAP1B loss-of-function variant associated with periventricular nodular heterotopia 9 and literature review on genotype-phenotype associations of MAP1B
错义突变
生物
桑格测序
遗传学
RNA剪接
表型
基因型
突变体
基因
突变
核糖核酸
作者
Cong Zhou,Feng Tang,Xihan Wang,Jingqun Mai,Rui Li,Jing Wang