Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.V125D
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GJB1

NM_000166.6:p.V125D

Associated Papers

[Two novel mutations of GJB1 gene associated with typical X-linked Charcot-Marie-Tooth disease].

Qiao XH et al.

Zhonghua Yi Xue Za Zhi, 2009

Trifluoroethanol reveals helical propensity at analogous positions in cytoplasmic domains of three connexins.

Fort AG et al.

Biopolymers, 2009

Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.

Lee MJ et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 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."