Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.V13L
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PMP22

NM_000304.4:p.V13L

Associated Papers

Mechanisms and Treatments in Demyelinating CMT.

Fridman V et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2021

Cellular mechanisms of connexin32 mutations associated with CNS manifestations.

Kleopa KA et al.

Journal of Neuroscience Research, 2002

Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease.

Martin PE et al.

Journal of Neurochemistry, 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."