Varaico: Literature-Extracted Genetic Variants

Gene:GNAT2
Variant:p.D173G
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GNAT2

NM_001377295.2:p.D173G

Associated Papers

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.

Collin GB et al.

Cells, 2020

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

Felden J et al.

Human Mutation, 2019

Causes and consequences of inherited cone disorders.

Roosing S et al.

Progress in Retinal and Eye Research, 2014

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

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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."