Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.A40V
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GJC2

NM_020435.4:p.A40V

Associated Papers

Human diseases associated with connexin mutations.

Srinivas M et al.

Biochimica Et Biophysica Acta. Biomembranes, 2018

Mechanisms linking connexin mutations to human diseases.

Kelly JJ et al.

Cell and Tissue Research, 2015

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

Martin PE et al.

Cell and Tissue Research, 2015

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

De Bock M et al.

Frontiers in Pharmacology, 2013

Gap junctions in inherited human disorders of the central nervous system.

Abrams CK et al.

Biochimica Et Biophysica Acta, 2012

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

Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease.

Laird DW

The Journal of Biological Chemistry, 2008

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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."