GeneticsbioRxivPreprint
Novel missense mutation E585K in retinitis pigmentosa leads to compromised RPGR splicing diversity
Yanshan Liu, Jifeng Wan, Chunyan Ren…·Jian‐Huan Chen
The paper identifies a novel missense mutation E585K in RPGR that affects RNA splicing patterns, leading to reduced splicing diversity and potentially explaining slow disease progression in RP patients.
DOI 10.1101/2020.05.22.109884