Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.C169_N170insFs
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GJB2

NM_004004.6:p.C169_N170insFs

Associated Papers

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.

Yu X et al.

Orphanet Journal of Rare Diseases, 2020

An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.

Ghasemnejad T et al.

International Journal of Pediatric Otorhinolaryngology, 2017

The deafness-causing mutation c.508_511dup in the GJB2 gene and a literature review.

Zhu YM et al.

Acta Oto-laryngologica, 2015

Finding mutation within non-coding region of GJB2 reveals its importance in genetic testing of hearing loss in Iranian population.

Kashef A et al.

International Journal of Pediatric Otorhinolaryngology, 2015

Molecular etiology of non-dominant, non-syndromic, mild-to-moderate childhood hearing impairment in Chinese Hans.

Chai Y et al.

American Journal of Medical Genetics. Part A, 2014

The p.V37I exclusive genotype of GJB2: a genetic risk-indicator of postnatal permanent childhood hearing impairment.

Li L et al.

Plos One, 2012

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

Mahdieh N et al.

Journal of Human Genetics, 2010

GJB2 mutations: passage through Iran.

Najmabadi H et al.

American Journal of Medical Genetics. Part A, 2005

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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."