Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.T55I
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GJB4

NM_153212.3:p.T55I

Associated Papers

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

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."