Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.G12V
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GJB1

NM_000166.6:p.G12V

Associated Papers

Structural studies of the N-terminus of Connexin 32 using 1H NMR spectroscopy.

Kalmatsky BD et al.

Archives of Biochemistry and Biophysics, 2009

Assessing high-resolution melt curve analysis for accurate detection of gene variants in complex DNA fragments.

Tindall EA et al.

Human Mutation, 2009

Gap-junction channels dysfunction in deafness and hearing loss.

Martínez AD et al.

Antioxidants & Redox Signaling, 2009

High-resolution melting analysis for rapid detection of KRAS, BRAF, and PIK3CA gene mutations in colorectal cancer.

Simi L et al.

American Journal of Clinical Pathology, 2008

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

Diestel S et al.

Biochemical and Biophysical Research Communications, 2002

Structure of the amino terminus of a gap junction protein.

Purnick PE et al.

Archives of Biochemistry and Biophysics, 2000

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."