Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.A40V
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GJA5

NM_181703.4:p.A40V

Associated Papers

Human diseases associated with connexin mutations.

Srinivas M et al.

Biochimica Et Biophysica Acta. Biomembranes, 2018

Connexins and skin disease: insights into the role of beta connexins in skin homeostasis.

Martin PE et al.

Cell and Tissue Research, 2015

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

Sun Y et al.

Plos One, 2014

Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?

De Bock M et al.

Frontiers in Pharmacology, 2013

Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50.

Tong JJ et al.

American Journal of Physiology. Cell Physiology, 2011

Gap junctions in inherited human disease.

Zoidl G et al.

Pflugers Archiv : European Journal of Physiology, 2010

Connexin-caused genetic diseases and corresponding mouse models.

Dobrowolski R et al.

Antioxidants & Redox Signaling, 2009

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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."