Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E1000fs
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RPGR

NM_001034853.2:p.E1000fs

Associated Papers

Genotypic and phenotypic landscape of novel RPGR variants in patients from Western Canada.

Gregory-Evans CY et al.

Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2026

Retinitis Pigmentosa GTPase Regulator-Associated X-Linked Retinitis Pigmentosa: Molecular Genetics and Clinical Characteristics.

Hwang S et al.

American Journal of Ophthalmology, 2025

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

Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.

Marta A et al.

Npj Genomic Medicine, 2025

39939324 (PubMed )
Supplement: 41525_2025_475_MOESM1_ESM.xlsx › Families

Exploring self-reported visual function and vision-related anxiety in patients with RPGR-associated retinal degeneration.

Gouveia N et al.

Scientific Reports, 2024

38956231 (PubMed )
Supplement: 41598_2024_66170_MOESM1_ESM.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

Multimodal structural disease progression of retinitis pigmentosa according to mode of inheritance.

Jauregui R et al.

Scientific Reports, 2019

31341231 (PubMed )
Supplement: 41598_2019_47251_MOESM1_ESM.pdf

X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers.

Kurata K et al.

International Journal of Molecular Sciences, 2019

High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa.

Bellingrath JS et al.

Investigative Ophthalmology & Visual Science, 2017

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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."