Varaico: Literature-Extracted Genetic Variants

Gene:RGR
Variant:p.M252_V253Splc
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RGR

NM_002921.4:p.M252_V253Splc

Associated Papers

The dark and bright sides of retinal G protein-coupled receptor (RGR) in vision and disease.

Ruddin G et al.

Progress in Retinal and Eye Research, 2025

Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

Machnicki MM et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

33170376 (PubMed )
Supplement: 10072_2020_4876_MOESM3_ESM.xlsx › variants

RGR variants in different forms of retinal diseases: The undetermined role of truncation mutations.

Li J et al.

Molecular Medicine Reports, 2016

Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.

Booij JC et al.

Ophthalmology, 2011

Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.

Morimura H et al.

Nature Genetics, 1999

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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."