Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.Q57H
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GJB6

NM_001110219.3:p.Q57H

Associated Papers

A novel dominant GJB2 (DFNA3) mutation in a Chinese family.

Wang H et al.

Scientific Reports, 2017

Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss.

Davarnia B et al.

International Journal of Pediatric Otorhinolaryngology, 2012

Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations.

Lipan M et al.

The Laryngoscope, 2011

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.

Mahdieh N et al.

Journal of Human Genetics, 2010

Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients.

Bonyadi M et al.

Genetic Testing and Molecular Biomarkers, 2009

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

Putcha GV et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007

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."