Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.T8P
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GJB1

NM_000166.6:p.T8P

Associated Papers

Genetic profile of Chinese patients with Charcot-Marie-Tooth disease.

Ouyang ZY et al.

Chinese Medical Journal, 2020

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

Bai D

Seminars in Cell & Developmental Biology, 2016

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

[The genetic polymorphism of melanoma-associated antigen 1 in Chinese normal donors and hepatoma patients].

Wang LP et al.

Zhonghua Gan Zang Bing Za Zhi = Zhonghua Ganzangbing Zazhi = Chinese Journal of Hepatology, 2004

A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease.

Di Iorio G et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2000

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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."