Article

RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)

2025-06-08

Abstract excerpt

<h4>Summary</h4> Inherited retinal diseases (IRDs) are rare disorders, typically presenting as Mendelian traits, that result in stationary or progressive visual impairment. They are characterized by extensive genetic heterogeneity, possibly the highest among all human genetic diseases, as well as diverse inheritance patterns. Despite advances in gene discovery, limited understanding of gene function and challenge...

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Literature Corpus work: 56e52037-25c3-5a78-98d7-5d9313384778
DOI: 10.1101/2025.06.08.653722

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