Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.T55I
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GJC2

NM_020435.4:p.T55I

Associated Papers

The role of oligodendrocyte gap junctions in neuroinflammation.

Papaneophytou C et al.

Channels (austin, Tex.), 2019

Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.

Abrams CK et al.

Scientific Reports, 2017

Transgenic replacement of Cx32 in gap junction-deficient oligodendrocytes rescues the phenotype of a hypomyelinating leukodystrophy model.

Schiza N et al.

Human Molecular Genetics, 2015

Gap junction disorders of myelinating cells.

Kleopa KA et al.

Reviews in the Neurosciences, 2010

Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects.

Sargiannidou I et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2009

The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem.

Taylor RA et al.

Neurology, 2003

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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."