Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.T55R
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GJB1

NM_000166.6:p.T55R

Associated Papers

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

Panosyan FB et al.

Neurology, 2017

A Review of X-linked Charcot-Marie-Tooth Disease.

Wang Y et al.

Journal of Child Neurology, 2016

Gap junctions in inherited human disorders of the central nervous system.

Abrams CK et al.

Biochimica Et Biophysica Acta, 2012

Gap junctions in inherited human disease.

Zoidl G et al.

Pflugers Archiv : European Journal of Physiology, 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

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."