Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium leading to nanophthalmos
MYRF基因的剪接变异会导致视网膜色素上皮细胞部分功能丧失，从而导致小眼球症。
期刊:JCI Insight
影响因子:6.1
doi:10.1172/jci.insight.194681
Rozumek, Gabrielle M; Brinkmeier, Michelle L; Guan, Bin; Wang, Su Qing; Tower, Catherine; Yang, Nina T; Lim, Rachel S; Kong, Dejuan; Soden, Daniel; Zhang, Qitao; Han, John Ys; Miller, Jason Ml; Dong, Lijin; Hannum, D Ford; Moroi, Sayoko E; Richards, Julia E; Hufnagel, Robert B; Prasov, Lev
