Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.C271S
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GJA1

NM_000165.5:p.C271S

Associated Papers

Connexin-43 remodelling and arrhythmias: hemichannels as key drivers of cardiac dysfunction.

Araujo PA et al.

The Journal of Physiology, 2025

Molecular insight into arrhythmogenic cardiomyopathy caused by DSG2 mutations.

Zhang B et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023

S-nitrosylation of connexin43 hemichannels elicits cardiac stress-induced arrhythmias in Duchenne muscular dystrophy mice.

Lillo MA et al.

Jci Insight, 2019

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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."