Article

A comprehensive map of missense trafficking variants in rhodopsin and their response to pharmacologic correction

2025-03-04

Abstract excerpt

Rhodopsin ( RHO ) missense variants are a leading cause of autosomal dominant retinitis pigmentosa (adRP), a progressive retinal degeneration with no currently approved therapies. Interpreting the pathogenicity of the growing number of identified RHO variants is a major clinical challenge, and understanding their disease mechanisms is essential for developing effective therapies. Here, we present a high-resoluti...

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Literature Corpus work: d2975d81-61f0-5bc5-90ef-fe99b877f21a
DOI: 10.1101/2025.02.27.640335

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