Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.S17_G21delins
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GJB2

NM_004004.6:p.S17_G21delins

Associated Papers

Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.

Ray M et al.

Journal of Pediatric Genetics, 2022

Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.

Adadey SM et al.

Life (basel, Switzerland), 2020

33126609 (PubMed )
Supplement: life-10-00258-s001.pdf

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

Ghasemnejad T et al.

International Journal of Pediatric Otorhinolaryngology, 2017

Detection of Connexion 26 GENE (GJB2) Mutations in Cases of Congenital Non Syndromic Deafness.

Banjara H et al.

Indian Journal of Otolaryngology and Head and Neck Surgery : Official Publication of the Association of Otolaryngologists of India, 2016

Deafness genes in Israel: implications for diagnostics in the clinic.

Brownstein Z et al.

Pediatric Research, 2009

Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.

Gardner P et al.

Pediatrics, 2006

Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program.

Propst EJ et al.

International Journal of Pediatric Otorhinolaryngology, 2006

GJB2 mutations and degree of hearing loss: a multicenter study.

Snoeckx RL et al.

American Journal of Human Genetics, 2005

Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.

Hamelmann C et al.

Human Mutation, 2001

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.

Rabionet R et al.

Human Mutation, 2000

The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population.

Sobe T et al.

Human Genetics, 2000

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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."