Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.C173R
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GJB1

NM_000166.6:p.C173R

Associated Papers

A Role of Inflammation in Charcot-Marie-Tooth Disorders-In a Perspective of Treatment?

Kamińska J et al.

International Journal of Molecular Sciences, 2024

Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease.

Chen CX et al.

Clinical Genetics, 2019

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

Panosyan FB et al.

Neurology, 2017

Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses.

Rajabally YA et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2016

Coexistent hereditary and inflammatory neuropathy.

Ginsberg L et al.

Brain : a Journal of Neurology, 2004

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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."