Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E884*
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RPGR

NM_001034853.2:p.E884*

Associated Papers

Early-Onset Cone Photoreceptor Degeneration Is Associated With High Myopia in RPGR-Related Retinal Dystrophy.

Raji S et al.

Journal of Ophthalmology, 2025

Impaired glutamylation of RPGRORF15 underlies the cone-dominated phenotype associated with truncating distal ORF15 variants.

Cehajic-Kapetanovic J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

36445968 (PubMed )
Supplement: pnas.2208707119.sapp.pdf

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

Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR.

Cehajic-Kapetanovic J et al.

Nature Medicine, 2020

CELLULAR IMAGING OF THE TAPETAL-LIKE REFLEX IN CARRIERS OF RPGR-ASSOCIATED RETINOPATHY.

Kalitzeos A et al.

Retina (philadelphia, Pa.), 2019

Exploring the Variable Phenotypes of RPGR Carrier Females in Assessing their Potential for Retinal Gene Therapy.

Nanda A et al.

Genes, 2018

Zebrafish Rpgr is required for normal retinal development and plays a role in dynein-based retrograde transport processes.

Shu X et al.

Human Molecular Genetics, 2010

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."