Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.K857fs
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RPGR

NM_001034853.2:p.K857fs

Associated Papers

Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.

Testa F et al.

Investigative Ophthalmology & Visual Science, 2025

40900079 (PubMed )
Supplement: iovs-66-12-5_s001.pdf

Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing.

Sather R et al.

International Journal of Molecular Sciences, 2023

37446072 (PubMed )
Supplement: ijms-24-10895-s001.zip › ijms-2370890-supplementary.pdf

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Karali M et al.

Scientific Reports, 2022

36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S2

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

Identification of Novel Deletions as the Underlying Cause of Retinal Degeneration in Two Pedigrees.

Branham K et al.

Advances in Experimental Medicine and Biology, 2018

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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."