A comprehensive map of missense trafficking variants in rhodopsin and their response to pharmacologic correction
Kannan Vrindavan Manian, Connor Ludwig, Yan Zhao, Nathan S. Abell, Robert Warneford-Thomson, Henry Chan, Zachary O. Casey, Xiaoping Yang, David E. Root, Matthew L. Albert, Jason Comander
The paper presents a high-resolution map of RHO missense variants' trafficking and evaluates pharmacologic correction with YC-001, identifying pathogenic variants and therapeutic potential.
Science Advances · Jul 29, 2026Peer-reviewedGenomics