Prime editing for the investigation of aberrant splicing defect associated with a pathogenic PRPH2 variant
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The human Peripherin 2 (PRPH2) gene, essential for the structure and function of photoreceptor outer segments, is implicated in a range of inherited retinal diseases (IRDs). This study focuses on the pathogenic c.828+1G>A PRPH2 splice site variant. We employed... ...
