Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.W77*
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GJB6

NM_001110219.3:p.W77*

Associated Papers

The Importance of Newborn Genetic Screening for Early Identification of GJB2 and SLC26A4 Related Hearing Loss.

Wener ER et al.

Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2025

Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.

Ray M et al.

Journal of Pediatric Genetics, 2022

Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India.

Adhikary B et al.

Gene, 2015

The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.

Yan D et al.

Genetic Testing and Molecular Biomarkers, 2015

Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants.

Du W et al.

Acta Oto-laryngologica, 2014

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

Mahdieh N et al.

Journal of Human Genetics, 2010

GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment.

Padma G et al.

Journal of Genetics, 2009

Low incidence of GJB2, GJB6 and mitochondrial DNA mutations in North Indian patients with non-syndromic hearing impairment.

Bhalla S et al.

Biochemical and Biophysical Research Communications, 2009

High prevalence of the connexin 26 (GJB2) mutation in Chinese cochlear implant recipients.

Chen D et al.

Orl; Journal for Oto-rhino-laryngology and Its Related Specialties, 2009

Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population.

Bajaj Y et al.

Clinical Otolaryngology : Official Journal of Ent-uk ; Official Journal of Netherlands Society for Oto-rhino-laryngology & Cervico-facial Surgery, 2008

[Screening of SLC26A4 (PDS) gene mutation in cochlear implant recipients with inner ear malformation].

Chen DY et al.

Zhonghua Yi Xue Za Zhi, 2007

[Analysis of genetic mutation in patients with nonsyndromic hearing loss received cochlear implant].

Tian YS et al.

Zhonghua Yi Xue Za Zhi, 2007

[High prevalence of connexin-26 (GJB2) mutation in cochlear implant recipients].

Chen DY et al.

Zhonghua Yi Xue Za Zhi, 2006

Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India.

RamShankar M et al.

Journal of Medical Genetics, 2003

Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations.

Ausems MG et al.

Journal of Medical Genetics, 2001

Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss.

Cohn ES et al.

American Journal of Medical Genetics, 1999

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.

Scott DA et al.

Human Mutation, 1998

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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."