Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.I75F
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GJA5

NM_181703.4:p.I75F

Associated Papers

Atrial Fibrillation: Focus on Myocardial Connexins and Gap Junctions.

Guo YH et al.

Biology, 2022

Functional Characterization of Novel Atrial Fibrillation-Linked GJA5 (Cx40) Mutants.

Noureldin M et al.

International Journal of Molecular Sciences, 2018

An atrial-fibrillation-linked connexin40 mutant is retained in the endoplasmic reticulum and impairs the function of atrial gap-junction channels.

Sun Y et al.

Disease Models & Mechanisms, 2014

Atrial fibrillation-linked GJA5/connexin40 mutants impaired gap junctions via different mechanisms.

Bai D

Febs Letters, 2014

Atrial fibrillation-linked germline GJA5/connexin40 mutants showed an increased hemichannel function.

Sun Y et al.

Plos One, 2014

Novel germline GJA5/connexin40 mutations associated with lone atrial fibrillation impair gap junctional intercellular communication.

Sun Y et al.

Human Mutation, 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."