Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.W24*
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GJB3

NM_024009.3:p.W24*

Associated Papers

Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran.

Aliazami F et al.

Iranian Journal of Public Health, 2020

Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia.

Plevova P et al.

Medicina (kaunas, Lithuania), 2018

Autosomal recessive nonsyndromic deafness genes: a review.

Duman D et al.

Frontiers in Bioscience (landmark Edition), 2012

Searching for digenic inheritance in deaf Brazilian individuals using the multiplex ligation-dependent probe amplification technique.

da Silva-Costa SM et al.

Genetic Testing and Molecular Biomarkers, 2011

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

Mahdieh N et al.

Journal of Human Genetics, 2010

GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods.

Bartsch O et al.

Audiology & Neuro-otology, 2010

GJB2 mutations in patients with nonsyndromic hearing loss from Croatia.

Sansović I et al.

Genetic Testing and Molecular Biomarkers, 2009

High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals.

Wattanasirichaigoon D et al.

Clinical Genetics, 2004

Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss.

Uyguner O et al.

Clinical Genetics, 2003

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

Impact of consanguineous marriages in GJB2-related hearing loss in the Iranian population: a report of a novel variant.

Mahdieh N et al.

Genetic Testing and Molecular Biomarkers, 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."