Open access
Jul 2026
A comprehensive map of missense trafficking variants in rhodopsin and their response to pharmacologic correction
A high-resolution map of RHO missense variant trafficking using deep mutational scanning approaches, including a surface abundance immunoassay and a complementary membrane proximity assay, provides a valuable resource for pathogenicity assessment, genotype-phenotype correlations, and the development of targeted therapeutic strategies for RHO-adRP.
K. Manian, Connor H. Ludwig, Yan Zhao et al.
· Science Advances · 0 citations