A splice acceptor variant in RGS6 associated with intellectual disability, microcephaly, and cataracts disproportionately promotes expression of a subset of RGS6 isoforms
生物
遗传学
基因亚型
外显子
内含子
选择性拼接
RNA剪接
剪接
移码突变
基因
核糖核酸
作者
Katelin E. Ahlers‐Dannen,Jing Yang,Mackenzie M. Spicer,Daniel Fu,Alison N. DeVore,Rory A. Fisher