Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.T191fs
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GJB1

NM_000166.6:p.T191fs

Associated Papers

New evidence for secondary axonal degeneration in demyelinating neuropathies.

Moss KR et al.

Neuroscience Letters, 2021

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

A novel GJB1 frameshift mutation produces a transient CNS symptom of X-linked Charcot-Marie-Tooth disease.

Sakaguchi H et al.

Journal of Neurology, 2011

[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."