Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.C53S
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PMP22

NM_000304.4:p.C53S

Associated Papers

Peripheral myelin protein 22 alters membrane architecture.

Mittendorf KF et al.

Science Advances, 2017

X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.

Kim Y et al.

Clinical Genetics, 2012

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

Martin PE et al.

Journal of Neurochemistry, 2000

Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression.

Yoshimura T et al.

Journal of Neuroscience Research, 1998

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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."