Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.K694fs
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RPGR

NM_001034853.2:p.K694fs

Associated Papers

Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.

Suga A et al.

Human Mutation, 2022

36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1

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."