Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.I203N
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GJB1

NM_000166.6:p.I203N

Associated Papers

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

Coelho JPL et al.

Nature Communications, 2019

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

Kim Y et al.

Clinical Genetics, 2012

The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity.

Dubourg O et al.

Neuromuscular Disorders : Nmd, 2001

X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.

Birouk N et al.

Neurology, 1998

Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.

Rouger H et al.

Human Mutation, 1997

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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."