Varaico: Literature-Extracted Genetic Variants

Gene:GRK1
Variant:p.L308P
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GRK1

NM_002929.3:p.L308P

Associated Papers

Advancements and future directions in Oguchi disease research.

Fan F et al.

International Ophthalmology, 2025

Oguchi's disease: two cases and literature review.

Dai Y et al.

The Journal of International Medical Research, 2021

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

Poulter JA et al.

Human Mutation, 2021

A Homozygote Mutation in S-Antigen Visual Arrestin SAG Gene in an Iranian Patient with Oguchi Type One: A Case Report.

Aryan H et al.

Iranian Journal of Public Health, 2020

A novel missense mutation of the GRK1 gene in Oguchi disease.

Teke MY et al.

Molecular Medicine Reports, 2016

Clinical Findings in Four Siblings with Genetically Proven Oguchi Disease.

Ilhan C et al.

Journal of Current Ophthalmology, 0

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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."