Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.G52Splc
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RPGR

NM_001034853.2:p.G52Splc

Associated Papers

Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.

Testa F et al.

Investigative Ophthalmology & Visual Science, 2025

40900079 (PubMed )
Supplement: iovs-66-12-5_s001.pdf

Analysis of choriocapillaris vascular density in patients with retinitis pigmentosa caused by RPGR gene mutations.

Gesualdo C et al.

Bmc Ophthalmology, 2025

Genotype-Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review.

Yang J et al.

Frontiers in Genetics, 2021

34745198 (PubMed )
Supplement: Table_1.XLSX › Sheet1

Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations.

Di Iorio V et al.

Investigative Ophthalmology & Visual Science, 2020

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.

Branham K et al.

Investigative Ophthalmology & Visual Science, 2012

RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.

Jayasundera T et al.

Archives of Ophthalmology (chicago, Ill. : 1960), 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."