Varaico: Literature-Extracted Genetic Variants

Gene:GNAT1
Variant:p.I52N
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GNAT1

NM_144499.3:p.I52N

Associated Papers

Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.

Hayashi T et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2020

Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family.

Kubota D et al.

Ophthalmic Genetics, 2019

Riggs-type dominant congenital stationary night blindness: ERG findings, a new GNAT1 mutation and a systemic association.

Marmor MF et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2018

A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness.

Zeitz C et al.

Biomed Research International, 2018

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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."