Varaico: Literature-Extracted Genetic Variants

Gene:GNAT2
Variant:p.H282insFs
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GNAT2

NM_001377295.2:p.H282insFs

Associated Papers

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

Felden J et al.

Human Mutation, 2019

In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant.

Ueno S et al.

Japanese Journal of Ophthalmology, 2017

Retinal structure and function in achromatopsia: implications for gene therapy.

Sundaram V et al.

Ophthalmology, 2014

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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."