Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.M34K
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GJB1

NM_000166.6:p.M34K

Associated Papers

Structures of wild-type and selected CMT1X mutant connexin 32 gap junction channels and hemichannels.

Qi C et al.

Science Advances, 2023

37647412 (PubMed )
Supplement: sciadv.adh4890_sm.pdf

A network of chaperones prevents and detects failures in membrane protein lipid bilayer integration.

Coelho JPL et al.

Nature Communications, 2019

What's the Function of Connexin 32 in the Peripheral Nervous System?

Bortolozzi M

Frontiers in Molecular Neuroscience, 2018

Connexinopathies: a structural and functional glimpse.

García IE et al.

Bmc Cell Biology, 2016

Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysis.

Li LX et al.

Oncotarget, 2016

[Application of targeted capture technology and next generation sequencing in molecular diagnosis of inherited myopathy].

Fu X et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015

Diverse trafficking abnormalities of connexin32 mutants causing CMTX.

Yum SW et al.

Neurobiology of Disease, 2002

Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.

Mersiyanova IV et al.

Human Mutation, 2000

Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in russian charcot-marie-tooth neuropathy patients; irina V. Mersiyanova, sookhrat M. Ismailov, alexandr V. Polyakov, elena L. Dadali, valeriy P. Fedotov, eva nelis, ann Lofgren, vincent timmerman, christine van broeckhoven, and oleg V. Evgrafov (Article was originally published in human mutation 15:340-347, 2000)

Bogdanova N et al.

Human Mutation, 2000

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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."