Article

Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases

2023-11-10

Abstract excerpt

<h4>Background</h4> As gene-specific therapy for inherited retinal dystrophy (IRD) advances, unified variant interpretation across institutes is becoming increasingly important. This study aims to update the genetic findings of 86 retinitis pigmentosa (RP)–related genes in a large number of Japanese RP patients by applying the standardized variant interpretation guidelines for Japanese IRD patients (J-IRD-VI guide...

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Literature Corpus work: 6233c101-d874-574e-9a32-4093fd0d5f6e
DOI: 10.1101/2023.11.09.23297953

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