Mathieu Quinodoz #ESHG2025

De novo & inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

1.4% unsolved #RetinitisPigmentosa cases solved with variants in #RNU4-2
#RNU6-1 #RNU6-2 #RNU6-9

#MorbidGene

www.medrxiv.org/content/10.1...

Age of onset typically 15-30y