Varaico: Literature-Extracted Genetic Variants

Gene:SAG
Variant:p.R175*
Back to variants list

SAG

NM_000541.5:p.R175*

Associated Papers

Advancements and future directions in Oguchi disease research.

Fan F et al.

International Ophthalmology, 2025

Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.

Suga A et al.

Human Mutation, 2022

36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1

Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease.

Tawfik CA et al.

Bmc Ophthalmology, 2022

Oguchi's disease: two cases and literature review.

Dai Y et al.

The Journal of International Medical Research, 2021

A Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene.

Huang L et al.

Molecular Vision, 2012

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

Hayashi T et al.

Ophthalmic Research, 2011

Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease.

Oishi A et al.

American Journal of Ophthalmology, 2007

A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses.

Hayashi T et al.

Ophthalmology, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."