Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.V30I
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GJB3

NM_024009.3:p.V30I

Associated Papers

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

Lucaciu SA et al.

The Biochemical Journal, 2024

Connexins in epidermal health and diseases: insights into their mutations, implications, and therapeutic solutions.

Yasarbas SS et al.

Frontiers in Physiology, 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

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Erythrokeratoderma variabilis caused by a recessive mutation in GJB3.

Fuchs-Telem D 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."