Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.G110D
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GJB1

NM_000166.6:p.G110D

Associated Papers

Charcot-Marie-Tooth disease: Genetic profile of patients from a large Brazilian neuromuscular reference center.

Uchôa Cavalcanti EB et al.

Journal of the Peripheral Nervous System : Jpns, 2021

X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.

Kim Y et al.

Clinical Genetics, 2012

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

Novel human pathological mutations. Gene symbol: PMP22. Disease: Charcot-Marie-Tooth disease 1.

Rautenstrauss B et al.

Human Genetics, 2007

Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1.

Rautenstrauss B et al.

Human Genetics, 2007

Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1.

Rautenstrauss B et al.

Human Genetics, 2007

Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1.

Rautenstrauss B et al.

Human Genetics, 2007

Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1.

Rautenstrauss B et al.

Human Genetics, 2007

Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease 1.

Rautenstrauss B et al.

Human Genetics, 2007

Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease 1.

Rautenstrauss B et al.

Human Genetics, 2007

Molecular genetic analysis of the GJB1 gene: a study of six mutations.

Kochański A et al.

Journal of Applied Genetics, 2004

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

Huehne K et al.

Human Mutation, 2003

[Charcot-Marie Tooth type X (CMTX) disease: clinical and genetic characteristics of eleven patients].

Kochański A et al.

Neurologia I Neurochirurgia Polska, 0

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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."