GeneticsHuman Genetics and Genomics AdvancesPeer-reviewed
Exonic splice variant discovery using in vitro models of inherited retinal disease
Nathaniel K. Mullin, Laura R. Bohrer, Kristin R. Anfinson…·Edwin M. Stone
The paper identifies a splice defect caused by the NR2E3 c.932G>A variant in retinal disease, challenging previous assumptions about its molecular mechanism.
DOI 10.1016/j.xhgg.2024.100357