Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.L135V
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GJB3

NM_024009.3:p.L135V

Associated Papers

The genetic and molecular basis of a connexin-linked skin disease.

Lucaciu SA et al.

The Biochemical Journal, 2024

A Connexin Gene (GJB3) Mutation in a Chinese Family With Erythrokeratodermia Variabilis, Ichthyosis and Nonsyndromic Hearing Loss: Case Report and Mutations Update.

Gao Y et al.

Frontiers in Genetics, 2022

Erythrokeratodermia variabilis et progressiva.

Ishida-Yamamoto A

The Journal of Dermatology, 2016

Connexin channels in congenital skin disorders.

Lilly E et al.

Seminars in Cell & Developmental Biology, 2016

Connexins in epidermal homeostasis and skin disease.

Scott CA et al.

Biochimica Et Biophysica Acta, 2012

Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis.

Liu H et al.

The Journal of Dermatology, 2012

Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis.

Scott CA et al.

Clinical and Experimental Dermatology, 2011

[Study on mutations in the connexin 26 gene among Chinese with nonsyndromic hearing loss].

Ke X et al.

Zhonghua Er Bi Yan Hou Ke Za Zhi, 2001

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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."