GenomicsbioRxivPreprint
The prevalent NR2E3 c.932G>A mutation induces aberrant splicing that can be rescued using splice-shifting antisense oligonucleotides
Yehezkel Sztainberg, Maya David Teitelbaum, Ilana Buchumenski…·Ariel Feiglin
This study identifies aberrant splicing caused by the NR2E3 c.932G>A mutation and shows that splice-shifting ASOs can restore full-length protein function.
DOI 10.1101/2024.05.01.592034