Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.N14S
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GJB1

NM_000166.6:p.N14S

Associated Papers

New evidence for secondary axonal degeneration in demyelinating neuropathies.

Moss KR et al.

Neuroscience Letters, 2021

Novel gap junction protein beta-1 gene mutation associated with a stroke-like syndrome and central nervous system involvement in patients with X-linked Charcot-Marie-Tooth Type 1: A case report and literature review.

Hu G et al.

Clinical Neurology and Neurosurgery, 2019

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

Wang Y et al.

Journal of Child Neurology, 2016

GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems.

Abrams CK et al.

Cell and Tissue Research, 2015

Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene.

Stancanelli C et al.

Journal of the Peripheral Nervous System : Jpns, 2012

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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."