Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.G12V
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GJB3

NM_024009.3:p.G12V

Associated Papers

Gap-junction channels dysfunction in deafness and hearing loss.

Martínez AD et al.

Antioxidants & Redox Signaling, 2009

Gap junctions and connexins in the inner ear: their roles in homeostasis and deafness.

Nickel R et al.

Current Opinion in Otolaryngology & Head and Neck Surgery, 2008

DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.

Tang HY et al.

American Journal of Medical Genetics. Part A, 2006

Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells.

Diestel S et al.

Biochemical and Biophysical Research Communications, 2002

Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.

Wu BL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

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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."