Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.E41D
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GJB1

NM_000166.6:p.E41D

Associated Papers

Mechanism of connexin channel inhibition by mefloquine and 2-aminoethoxydiphenyl borate.

Lavriha P et al.

Plos One, 2024

39739741 (PubMed )
Supplement: pone.0315510.s003.xlsx › Fig1B_E_and_S4C-I

Identification of a rare missense mutation in GJB1 and prenatal diagnosis in a Chinese family with CMT: A case report.

Huang X et al.

Medicine, 2022

Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population.

Lorefice L et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2017

Gap junctions in inherited human disease.

Zoidl G et al.

Pflugers Archiv : European Journal of Physiology, 2010

Persistent CNS dysfunction in a boy with CMT1X.

Siskind C et al.

Journal of the Neurological Sciences, 2009

A novel Cx32 mutation causes X-linked Charcot-Marie-Tooth disease with brainstem involvement and brain magnetic resonance spectroscopy abnormalities.

Murru MR et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2006

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

Boerkoel CF et al.

Annals of Neurology, 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."