Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.P172L
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GJB1

NM_000166.6:p.P172L

Associated Papers

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype

Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients.

Sun B et al.

Journal of the Peripheral Nervous System : Jpns, 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

Phenotype expression in women with CMT1X.

Siskind CE et al.

Journal of the Peripheral Nervous System : Jpns, 2011

[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

Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1.

Ikegami T et al.

American Journal of Medical Genetics, 1998

Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.

Silander K et al.

Human Mutation, 1998

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