Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.S281*
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GJB1

NM_000166.6:p.S281*

Associated Papers

What's the Function of Connexin 32 in the Peripheral Nervous System?

Bortolozzi M

Frontiers in Molecular Neuroscience, 2018

Connexins, gap junctions and peripheral neuropathy.

Kleopa KA et al.

Neuroscience Letters, 2015

The role of gap junctions in Charcot-Marie-Tooth disease.

Kleopa KA

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2011

Molecular mechanisms of gap junction mutations in myelinating cells.

Sargiannidou I et al.

Histology and Histopathology, 2010

Gap junction disorders of myelinating cells.

Kleopa KA et al.

Reviews in the Neurosciences, 2010

Molecular mechanisms of inherited demyelinating neuropathies.

Scherer SS et al.

Glia, 2008

Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice.

Scherer SS et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2005

X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1).

Senderek J et al.

Journal of the Neurological Sciences, 1999

X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).

Senderek J et al.

Acta Neuropathologica, 1998

Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations.

Nelis E et al.

Human Mutation, 1997

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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."