Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.L76R
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GJB1

NM_000166.6:p.L76R

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

37284795 (PubMed )
Supplement: awad187_supplementary_data.zip › Supp_data_2_working_v2.pdf

Hereditary Neuropathies.

Hayes LH et al.

Continuum (minneapolis, Minn.), 2023

Systematic review of CMTX1 patients with episodic neurological dysfunction.

Tian D et al.

Annals of Clinical and Translational Neurology, 2021

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

Rajabally YA et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2016

Inherited neuropathies: an update.

Sagnelli A et al.

Journal of Neurology, 2013

A family with IVIg-responsive Charcot-Marie-Tooth disease.

Miki Y et al.

Journal of Neurology, 2013

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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."