Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.R143*
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GJB6

NM_001110219.3:p.R143*

Associated Papers

GJB2-Related Hearing Loss: Genotype-Phenotype Correlations, Natural History, and Emerging Therapeutic Strategies.

Morris JA et al.

International Journal of Molecular Sciences, 2026

Systematic review and meta-analysis of pathogenic GJB2 variants in the Asian population.

Ozgur Z et al.

International Journal of Pediatric Otorhinolaryngology, 2025

Epidemiology, etiology, genetic variants in non- syndromic hearing loss in Iran: A systematic review and meta-analysis.

Aliazami F et al.

International Journal of Pediatric Otorhinolaryngology, 2023

Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.

Pál M et al.

International Journal of Molecular Sciences, 2023

Role of GJB2 and GJB6 in Iranian Nonsyndromic Hearing Impairment: From Molecular Analysis to Literature Reviews.

Falah M et al.

Fetal and Pediatric Pathology, 2020

Systematic Review of Pathogenic GJB2 Variants in the Latino Population.

Bouzaher MH et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020

Genetics of Hearing Loss in North Iran Population: An Update of Spectrum and Frequency of GJB2 Mutations.

Koohiyan M et al.

Journal of Audiology & Otology, 2019

Frequency of GJB2 mutations, GJB6-D13S1830 and GJB6-D13S1854 deletions among patients with non-syndromic hearing loss from the central region of Iran.

Naddafnia H et al.

Molecular Genetics & Genomic Medicine, 2019

The genetic basis of deafness in populations of African descent.

Rudman JR et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2017

Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.

Beheshtian M et al.

Archives of Iranian Medicine, 2016

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

EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus.

Hoefsloot LH et al.

European Journal of Human Genetics : Ejhg, 2013

Phenotype-genotype correlation in 295 Chinese deaf subjects with biallelic causative mutations in the GJB2 gene.

Zhao FF et al.

Genetic Testing and Molecular Biomarkers, 2011

Prevalent connexin 26 gene (GJB2) mutations in Japanese.

Abe S et al.

Journal of Medical 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."