Allelic Architecture and Clinical Spectrum of RP1-Associated Retinal Dystrophies in a Multicenter Korean Cohort.
Purpose To define the allelic architecture and phenotypic spectrum of RP1-associated retinal dystrophies in a large Korean cohort, emphasizing recurrent truncating alleles, phasing of linked variants, and mobile-element insertions (MEIs) underdetected by standard next-generation sequencing. Methods This retrospective...