Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.T55I
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GJB6

NM_001110219.3:p.T55I

Associated Papers

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

Abrams CK et al.

Scientific Reports, 2017

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

Cellular mechanisms of connexin32 mutations associated with CNS manifestations.

Kleopa KA et al.

Journal of Neuroscience Research, 2002

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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."