Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.V13M
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GJB1

NM_000166.6:p.V13M

Associated Papers

Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study.

Barbat du Closel L et al.

European Journal of Neurology, 2025

Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.

Cakar A et al.

European Journal of Neurology, 2025

39776111 (PubMed )
Supplement: ENE-32-e16572-s001.xlsx › Sheet1

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.

Record CJ et al.

Brain : a Journal of Neurology, 2023

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

Panosyan FB et al.

Neurology, 2017

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

Liu L et al.

Clinical Genetics, 2017

[Analysis of CX32 gene mutation and related clinical features in Chinese Han Charcot-Marie-Tooth families].

Zhan YJ et al.

Zhonghua Yi Xue Za Zhi, 2012

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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."