Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium
Gabrielle M. Rozumek, Michelle Lynn Brinkmeier, Bin Guan, Su Qing Wang, Catherine A. Tower, Nina T. Yang, Rachel Lim, Lijin Dong, Douglas Ford Hannum, Sayoko Eileen Moroi, Julia E. Richards, Robert B. Hufnagel, Lev Prasov
The paper identifies a hypomorphic MYRF variant causing partial loss of function in the RPE, with two novel splicing variants linked to isolated nanophthalmos.
bioRxiv · Apr 21, 2025 · PreprintGenetics