Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.Y211*
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GJB1

NM_000166.6:p.Y211*

Associated Papers

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

Qi C et al.

Science Advances, 2023

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

X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.

Kim Y et al.

Clinical Genetics, 2012

Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene.

Ainsworth PJ et al.

Human Genetics, 1998

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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."