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Author

Jae Shin Song

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Review Open access Oct 2026

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...

Yunnie Cho, Kwangsic Joo, Sohee Jeon et al. · 0 citations

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