Varaico: Literature-Extracted Genetic Variants

Gene:GNAT2
Variant:p.D200N
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GNAT2

NM_001377295.2:p.D200N

Associated Papers

Diminished Cone Sensitivity in cpfl3 Mice Is Caused by Defective Transducin Signaling.

Chen NS et al.

Investigative Ophthalmology & Visual Science, 2020

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.

Felden J et al.

Human Mutation, 2019

A naturally occurring mouse model of achromatopsia: characterization of the mutation in cone transducin and subsequent retinal phenotype.

Jobling AI et al.

Investigative Ophthalmology & Visual Science, 2013

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies.

den Hollander AI et al.

The Journal of Clinical Investigation, 2010

Naturally occurring animal models with outer retina phenotypes.

Baehr W et al.

Vision Research, 2009

Restoration of cone vision in a mouse model of achromatopsia.

Alexander JJ et al.

Nature Medicine, 2007

Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2.

Chang B et al.

Investigative Ophthalmology & Visual Science, 2006

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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."