Varaico: Literature-Extracted Genetic Variants

Gene:GJC1
Variant:p.R75H
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GJC1

NM_005497.4:p.R75H

Associated Papers

Inherited disease-linked arginine76/75 mutants in Cx50 and Cx45 showed impaired homotypic and heterotypic gap junction function, but not Cx43.

Li T et al.

The Biochemical Journal, 2023

Discovery of GJC1 (Cx45) as a New Gene Underlying Congenital Heart Disease and Arrhythmias.

Li YJ et al.

Biology, 2023

Connexin Mutations and Hereditary Diseases.

Qiu Y et al.

International Journal of Molecular Sciences, 2022

Atrial Fibrillation: Focus on Myocardial Connexins and Gap Junctions.

Guo YH et al.

Biology, 2022

Cellular mechanisms of connexin-based inherited diseases.

Laird DW et al.

Trends in Cell Biology, 2022

Mechanisms of Connexin-Related Lymphedema.

Castorena-Gonzalez JA et al.

Circulation Research, 2018

Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation.

Seki A et al.

Journal of the American College of Cardiology, 2017

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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."