Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.T18I
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GJB3

NM_024009.3:p.T18I

Associated Papers

Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran.

Aliazami F et al.

Iranian Journal of Public Health, 2020

Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.

Adadey SM et al.

Life (basel, Switzerland), 2020

Mechanism of a novel missense mutation, p.V174M, of the human connexin31 (GJB3) in causing nonsyndromic hearing loss.

Li TC et al.

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2014

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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."