Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.C201R
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GJB1

NM_000166.6:p.C201R

Associated Papers

Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population.

Casasnovas C et al.

Clinical Genetics, 2006

Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild-type connexin32 in myelinating Schwann cells.

Huang Y et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2005

A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe X-linked Charcot-Marie-Tooth disease.

Sillén A et al.

Human Mutation, 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."