Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.P172S
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GJB1

NM_000166.6:p.P172S

Associated Papers

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

Bortolozzi M

Frontiers in Molecular Neuroscience, 2018

Colony-stimulating factor-1 mediates macrophage-related neural damage in a model for Charcot-Marie-Tooth disease type 1X.

Groh J et al.

Brain : a Journal of Neurology, 2012

Phenotype expression in women with CMT1X.

Siskind CE et al.

Journal of the Peripheral Nervous System : Jpns, 2011

Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.

Wang HL et al.

Neurobiology of Disease, 2004

Connexin32 in the Peripheral Nervous System: Functional Analysis of Mutations Associated with X-linked Charcot-Marie-Tooth Syndrome and Implications for the Pathophysiology of the Disease.

Nicholson SM et al.

Annals of the New York Academy of Sciences, 1999

Connexin32 in the peripheral nervous system. Functional analysis of mutations associated with X-linked Charcot-Marie-Tooth syndrome and implications for the pathophysiology of the disease.

Nicholson SM et al.

Annals of the New York Academy of Sciences, 1999

Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties.

Ressot C et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1998

Connexin mutations in X-linked Charcot-Marie-Tooth disease.

Bergoffen J et al.

Science (new York, N.y.), 1993

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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."