Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.L209F
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GJB3

NM_024009.3:p.L209F

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

The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis.

Sugiura K et al.

The British Journal of Dermatology, 2015

Connexins in epidermal homeostasis and skin disease.

Scott CA et al.

Biochimica Et Biophysica Acta, 2012

A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis.

Morley SM et al.

The British Journal of Dermatology, 2005

Novel mutation of connexin 31 causing erythrokeratoderma variabilis.

Feldmeyer L et al.

The British Journal of Dermatology, 2005

[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."