Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.S272P
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GJA1

NM_000165.5:p.S272P

Associated Papers

Connexin hemichannels as candidate targets for cardioprotective and anti-arrhythmic treatments.

Leybaert L et al.

The Journal of Clinical Investigation, 2023

Fulminant myocarditis following recurrent generalized erythrokeratoderma in a child with a heterozygous GJA1 variant.

Kobayashi H et al.

American Journal of Medical Genetics. Part A, 2020

GJA1 gene variations in sudden unexplained nocturnal death syndrome in the Chinese Han population.

Wu Q et al.

Forensic Science International, 2017

36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting.

Gripp KW et al.

American Journal of Medical Genetics. Part A, 2016

Connexinopathies: a structural and functional glimpse.

García IE et al.

Bmc Cell Biology, 2016

Mechanisms linking connexin mutations to human diseases.

Kelly JJ et al.

Cell and Tissue Research, 2015

Mutations in cardiovascular connexin genes.

Molica F et al.

Biology of the Cell, 2014

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

Bai D

Febs Letters, 2014

Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data.

Andreasen C et al.

The Canadian Journal of Cardiology, 2013

Cardiac connexins, mutations and arrhythmias.

Delmar M et al.

Current Opinion in Cardiology, 2012

Connexin43 mutation causes heterogeneous gap junction loss and sudden infant death.

Van Norstrand DW et al.

Circulation, 2012

Cardiac ion channelopathies and the sudden infant death syndrome.

Wilders R

Isrn Cardiology, 2012

Cardiac ion channel mutations in the sudden infant death syndrome.

Klaver EC et al.

International Journal of Cardiology, 2011

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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."