Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E771delFs
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RPGR

NM_001034853.2:p.E771delFs

Associated Papers

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

Gesualdo C et al.

Bmc Ophthalmology, 2025

Retinal Pigment Epithelium and Outer Retinal Atrophy (RORA) in Retinitis Pigmentosa: Functional, Structural, and Genetic Evaluation.

Savastano MC et al.

Translational Vision Science & Technology, 2024

39212608 (PubMed )
Supplement: tvst-13-8-44_s001.pdf

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Karali M et al.

Scientific Reports, 2022

36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.

Colombo L et al.

Investigative Ophthalmology & Visual Science, 2021

33576794 (PubMed )
Supplement: iovs-62-2-13_s001.xlsx › Table_S6_XL

X-linked dominant RPGR gene mutation in a familial Coats angiomatosis.

Nebbioso M et al.

Bmc Ophthalmology, 2021

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

Visual Cortical Plasticity in Retinitis Pigmentosa.

Lunghi C et al.

Investigative Ophthalmology & Visual Science, 2019

[Recent progress in molecular genetics and gene therapy for retinitis pigmentosa].

Wang DY et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2005

Gene mutations in retinitis pigmentosa and their clinical implications.

Wang DY et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2005

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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."