Varaico: Literature-Extracted Genetic Variants

Gene:SAG
Variant:p.S212delFs
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SAG

NM_000541.5:p.S212delFs

Associated Papers

Advancements and future directions in Oguchi disease research.

Fan F et al.

International Ophthalmology, 2025

Genetic analysis and clinical features of three Chinese patients with Oguchi disease.

Wei X et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2023

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

Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.

Nishiguchi KM et al.

Ophthalmology, 2019

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