Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E754*
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RPGR

NM_001034853.2:p.E754*

Associated Papers

Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome.

Gong X et al.

Investigative Ophthalmology & Visual Science, 2025

40232708 (PubMed )
Supplement: iovs-66-4-39_s001.pdf

Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.

Tuupanen S et al.

Translational Vision Science & Technology, 2022

34985506 (PubMed )
Supplement: tvst-11-1-6_s001.pdf

Analysis of RPGR gene mutations in 41 Chinese families affected by X-linked inherited retinal dystrophy.

Liu X et al.

Frontiers in Genetics, 2022

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

Novel mutations of RPGR in Chinese retinitis pigmentosa patients and the genotype-phenotype correlation.

Yang L et al.

Plos One, 2014

Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations.

Zahid S et al.

Jama Ophthalmology, 2013

RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population.

Ruddle JB et al.

The British Journal of Ophthalmology, 2009

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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."