Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.C179R
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GJB1

NM_000166.6:p.C179R

Associated Papers

Genetic epidemiology of Charcot-Marie-Tooth disease.

Braathen GJ

Acta Neurologica Scandinavica. Supplementum, 2012

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_

A molecular basis for hereditary motor and sensory neuropathy disorders.

Shy ME et al.

Current Neurology and Neuroscience Reports, 2001

Common themes in peripheral neuropathy disease genes.

Snipes GJ et al.

Cell Biology International, 1998

[The glucose-pyruvate test in Friedreich's ataxia and Charcot-Marie-Tooth disease].

Reggio A et al.

Acta Neurologica, 1981

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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."