Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.Y7C
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GJB1

NM_000166.6:p.Y7C

Associated Papers

Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing.

Nam SH et al.

Molecules and Cells, 2016

Structural analysis of key gap junction domains--Lessons from genome data and disease-linked mutants.

Bai D

Seminars in Cell & Developmental Biology, 2016

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

Kim Y et al.

Clinical Genetics, 2012

Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease.

Mandich P et al.

Journal of Human Genetics, 2008

Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.

Mostacciuolo ML et al.

Human Mutation, 2001

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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."