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Article

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

Scientific reports - 13 Dec 2022

Suvannaboon Ragkit, Pawestri Aulia Rahmi, Jinda Worapoj, Tuekprakhon Aekkachai, Trinavarat Adisak, Atchaneeyasakul La-Ongsri

Abstract excerpt

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 data of 125 patients suggestive of inherited retinal diseases (IRD), particularly non-syndromic RP, were assessed. We found a...

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Identifiers

PMID: 36513702
DOI: 10.1038/s41598-022-26017-0
PMCID: PMC9748023

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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