Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.W24C
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GJB1

NM_000166.6:p.W24C

Associated Papers

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.

Record CJ et al.

Brain : a Journal of Neurology, 2023

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

Panosyan FB et al.

Neurology, 2017

Gap junctions in inherited human disease.

Zoidl G et al.

Pflugers Archiv : European Journal of Physiology, 2010

Gap junction disorders of myelinating cells.

Kleopa KA et al.

Reviews in the Neurosciences, 2010

[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

Persistent CNS dysfunction in a boy with CMT1X.

Siskind C et al.

Journal of the Neurological Sciences, 2009

The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem.

Taylor RA et al.

Neurology, 2003

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."