Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.G12R
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GJB1

NM_000166.6:p.G12R

Associated Papers

The syndromic deafness mutation G12R impairs fast and slow gating in Cx26 hemichannels.

García IE et al.

The Journal of General Physiology, 2018

Gating of Connexin Channels by transjunctional-voltage: Conformations and models of open and closed states.

Bargiello TA et al.

Biochimica Et Biophysica Acta. Biomembranes, 2018

Structural studies of N-terminal mutants of Connexin 26 and Connexin 32 using (1)H NMR spectroscopy.

Batir Y et al.

Archives of Biochemistry and Biophysics, 2016

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

Martin PE et al.

Cell and Tissue Research, 2015

Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.

Bazazzadegan N et al.

American Journal of Medical Genetics. Part A, 2011

Gap junctions in inherited human disease.

Zoidl G et al.

Pflugers Archiv : European Journal of Physiology, 2010

Connexin-26 mutations in deafness and skin disease.

Lee JR et al.

Expert Reviews in Molecular Medicine, 2009

Gap-junction channels dysfunction in deafness and hearing loss.

Martínez AD et al.

Antioxidants & Redox Signaling, 2009

Genetic diseases of junctions.

Lai-Cheong JE et al.

The Journal of Investigative Dermatology, 2007

Connexins: a connection with the skin.

Richard G

Experimental Dermatology, 2000

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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."