Varaico: Literature-Extracted Genetic Variants

Gene:CNGA3
Variant:p.G267D
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CNGA3

NM_001298.3:p.G267D

Associated Papers

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.

Solaki M et al.

Human Mutation, 2022

Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia: A Nonrandomized Controlled Trial.

Fischer MD et al.

Jama Ophthalmology, 2020

The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial.

Zobor D et al.

Investigative Ophthalmology & Visual Science, 2017

Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment.

Tanaka N et al.

Plos One, 2015

26407004 (PubMed )
Supplement: pone.0138943.s008.docx

Structure, dynamics and implied gating mechanism of a human cyclic nucleotide-gated channel.

Gofman Y et al.

Plos Computational Biology, 2014

25474149 (PubMed )
Supplement: pcbi.1003976.s013.pdf

Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel.

Muraki-Oda S et al.

Biochemical and Biophysical Research Communications, 2007

CNGA3 mutations in hereditary cone photoreceptor disorders.

Wissinger B et al.

American Journal of Human Genetics, 2001

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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."