Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.L10delFs
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GJB3

NM_024009.3:p.L10delFs

Associated Papers

Trafficking abnormality and ER stress underlie functional deficiency of hearing impairment-associated connexin-31 mutants.

Xia K et al.

Protein & Cell, 2010

Genetics of congenital hearing impairment: a clinical approach.

Tranebaerg L

International Journal of Audiology, 2008

Intracellular distribution, assembly and effect of disease-associated connexin 31 mutants in HeLa cells.

He LQ et al.

Acta Biochimica Et Biophysica Sinica, 2005

Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population.

Gabriel H et al.

Human Mutation, 2001

Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness.

Skvorak AB et al.

Human Molecular Genetics, 1999

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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."