Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.K751fs
Back to variants list

RPGR

NM_001034853.2:p.K751fs

Associated Papers

Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease.

Hong YJ et al.

Annals of Laboratory Medicine, 2025

41457516 (PubMed )
Supplement: alm-46-2-200-supple.pdf

Panel-Based Genetic Testing in a Consecutive Series of Individuals with Inherited Retinal Diseases in Australia: Identifying Predictors of a Diagnosis.

Britten-Jones AC et al.

Genes, 2025

40869936 (PubMed )
Supplement: genes-16-00888-s001.zip › genes-3753886-Supplemental_materials.pdf

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

Hwang S et al.

American Journal of Ophthalmology, 2025

A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.

Areblom M et al.

Genes, 2023

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

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
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."