Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.G12insFs
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GJB3

NM_024009.3:p.G12insFs

Associated Papers

Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.

Ray M et al.

Journal of Pediatric Genetics, 2022

Congenital hearing loss: a literature review of the genetic etiology in a Mexican population.

Torre-González C et al.

Boletin Medico Del Hospital Infantil De Mexico, 2022

Gene mutation analysis and genetic counseling for patients with non-syndromic hearing loss in Linyi region.

Li H et al.

Experimental and Therapeutic Medicine, 2019

Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China.

Luo J et al.

Annals of Human Genetics, 2017

Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.

Yao G et al.

Acta Oto-laryngologica, 2013

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

Mahdieh N et al.

Journal of Human Genetics, 2010

GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.

Dai P et al.

Journal of Translational Medicine, 2009

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

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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."