The Trajectory of Gene Discovery in Retinitis Pigmentosa.

doi:10.3390/genes17080940

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The Trajectory of Gene Discovery in Retinitis Pigmentosa.

Genes - 12 Aug 2026

Wong Anthony X J, Chua Zachary, Guo Jing, Tay Hwee Goon, Wang Zhen Xun, Quinodoz Mathieu, Tan Tien-En, Rivolta Carlo, Fenner Beau J

Abstract excerpt

Background: To assess how historical patterns in retinitis pigmentosa (RP) gene inheritance, functional category, and phenotypic onset may inform the remaining unsolved RP discovery space. Methods: We manually reviewed PubMed-indexed primary reports in the RetiGene database, supplemented with PubMed-indexed human studies where necessary to improve extractable phenotype data. Gene-level variables extracted...

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Age of Onset
AR gene
Genetic Association Studies
Genetic Predisposition to Disease
Phenotype
Retinitis Pigmentosa

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PMID: 42650133
DOI: 10.3390/genes17080940
PMCID: PMC13512129

Genes

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