Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E757fs
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RPGR

NM_001034853.2:p.E757fs

Associated Papers

Open-Angle and Steroid-Induced Glaucoma in Patients With Retinitis Pigmentosa: A Dangerous Liaison.

Jiménez-Berríos GA et al.

Cureus, 2024

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

A population-based epidemiological and genetic study of X-linked retinitis pigmentosa.

Prokisch H et al.

Investigative Ophthalmology & Visual Science, 2007

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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."