Varaico: Literature-Extracted Genetic Variants

Gene:SAG
Variant:p.E306*
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SAG

NM_000541.5:p.E306*

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

Oguchi's disease: two cases and literature review.

Dai Y et al.

The Journal of International Medical Research, 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

The molecular basis of retinal dystrophies in pakistan.

Khan MI et al.

Genes, 2014

A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease.

Waheed NK et al.

Molecular Vision, 2012

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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."