Varaico: Literature-Extracted Genetic Variants

Gene:GRK1
Variant:p.S205*
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GRK1

NM_002929.3:p.S205*

Associated Papers

Advancements and future directions in Oguchi disease research.

Fan F et al.

International Ophthalmology, 2025

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.

Munir A et al.

Bmc Ophthalmology, 2024

38317096 (PubMed )
Supplement: 12886_2024_3319_MOESM2_ESM.xlsx › Supplementary_Table_S2

New variants and in silico analyses in GRK1 associated Oguchi disease.

Poulter JA et al.

Human Mutation, 2021

The molecular basis of retinal dystrophies in pakistan.

Khan MI et al.

Genes, 2014

Macular Dysfunction in Oguchi Disease with the Frequent Mutation 1147delA in the SAG Gene.

Hayashi T et al.

Ophthalmic Research, 2011

A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.

Azam M et al.

Molecular Vision, 2009

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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."