Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.A83Splc
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RPGR

NM_001034853.2:p.A83Splc

Associated Papers

Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.

Jiang Y et al.

Biomolecules, 2025

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

X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR.

Kortüm F et al.

International Journal of Molecular Sciences, 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

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."