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Article

Detailed comparison of phenotype between male patients carrying variants in exons 1-14 and ORF15 of RPGR.

Experimental eye research - 1 Sept 2020

Zou Xuan, Fang Sha, Wu Shijing, Li Hui, Sun Zixi, Zhu Tian, Wei Xing, Sui Ruifang

Abstract excerpt

PURPOSE: To compare disease severity in detail between patients carrying variants in exons 1-14 and ORF15 of retinitis pigmentosa GTPase regulator (RPGR). METHODS: Systematic next-generation sequencing data analysis, Sanger sequencing validation and segregation analysis were utilised to identify the pathogenic variants. Detailed ophthalmic examinations, including electroretinograms, fundus photography, fundus...

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Identifiers

PMID: 32702353
DOI: 10.1016/j.exer.2020.108147

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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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