Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.T188A
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GJB1

NM_000166.6:p.T188A

Associated Papers

Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families.

Liu L et al.

Clinical Genetics, 2017

Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients.

Sun B et al.

Chinese Medical Journal, 2016

[The clinical presentation and gene mutation of probands in Chinese patients with Charcot-Marie-Tooth disease].

Liu X et al.

Zhonghua Nei Ke Za Zhi, 2015

Mutation screening of Cx32 in Han Chinese patients with Charcot-Marie-Tooth disease.

Zhang RX et al.

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2005

[Mutation analysis of neurofilament-light gene in Chinese Charcot-Marie-Tooth disease].

Luo W et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2003

A new mutation in the connexin 32 gene was found in Charcot- Marie-Tooth disease in Chinese patients.

Da Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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."