Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study

Abstract Retinitis pigmentosa (RP) affects 1:5000 individuals worldwide. Interestingly, variations in 271 RP-related genes are indicated to vary among populations. We aimed to evaluate the genetic prevalence and phenotypic profiles of Thai patients with RP. The clinical and whole exome sequencing da...

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Bibliographic Details
Main Authors: Ragkit Suvannaboon, Aulia Rahmi Pawestri, Worapoj Jinda, Aekkachai Tuekprakhon, Adisak Trinavarat, La-ongsri Atchaneeyasakul
Format: Article
Language:English
Published: Nature Portfolio 2022-12-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-022-26017-0