Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.R723fs
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RPGR

NM_001034853.2:p.R723fs

Associated Papers

Cone Structure and Function in RPGR- and USH2A-Associated Retinal Degeneration.

Micevych PS et al.

American Journal of Ophthalmology, 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
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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."