Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.R184T
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GJB6

NM_001110219.3:p.R184T

Associated Papers

Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.

Pál M et al.

International Journal of Molecular Sciences, 2023

Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss.

Batissoco AC et al.

Human Genetics, 2022

GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.

Buonfiglio P et al.

Genes, 2020

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

First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss.

Özyılmaz B et al.

Turkish Archives of Otorhinolaryngology, 2019

Distribution and phenotype of GJB2 mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss.

Salvago P et al.

International Journal of Audiology, 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

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

Putcha GV et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007

GJB2: the spectrum of deafness-causing allele variants and their phenotype.

Azaiez H et al.

Human Mutation, 2004

Evaluation of electrocardiographic parameters in patients with hearing loss genotyped for the connexin 26 gene (GJB2) mutations.

Sanecka A et al.

Brazilian Journal of Otorhinolaryngology, 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."