Varaico: Literature-Extracted Genetic Variants

Gene:CCT2
Variant:p.L394H
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CCT2

NM_006431.3:p.L394H

Associated Papers

Compound heterozygous mutations in a mouse model of Leber congenital amaurosis reveal the role of CCT2 in photoreceptor maintenance.

Suga A et al.

Communications Biology, 2024

Reduced ADP off-rate by the yeast CCT2 double mutation T394P/R510H which causes Leber congenital amaurosis in humans.

Roy M et al.

Communications Biology, 2023

Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies.

Fuster-García C et al.

Genes, 2020

CRISPR/Cas9 disease models in zebrafish and Xenopus: The genetic renaissance of fish and frogs.

Naert T et al.

Drug Discovery Today. Technologies, 2018

Mutation in the Zebrafish cct2 Gene Leads to Abnormalities of Cell Cycle and Cell Death in the Retina: A Model of CCT2-Related Leber Congenital Amaurosis.

Minegishi Y et al.

Investigative Ophthalmology & Visual Science, 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."