Varaico: Literature-Extracted Genetic Variants

Gene:RGR
Variant:p.H152N
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RGR

NM_001012720.2:p.H152N

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

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Diñeiro M et al.

Acta Ophthalmologica, 2020

32483926 (PubMed )
Supplement: AOS-98-e1034-s012.xlsx › Table_S12

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

Li J et al.

Molecular Medicine Reports, 2016

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › dbSNP

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."