Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.E147K
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GJB6

NM_001110219.3:p.E147K

Associated Papers

Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.

Pál M et al.

International Journal of Molecular Sciences, 2023

Genetic etiology of non-syndromic hearing loss in Latin America.

Lezirovitz K et al.

Human Genetics, 2022

Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.

Ray M et al.

Journal of Pediatric Genetics, 2022

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

Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia.

Plevova P et al.

Medicina (kaunas, Lithuania), 2018

Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India.

Adhikary B et al.

Gene, 2015

Bioinformatic Analysis of GJB2 Gene Missense Mutations.

Yilmaz A

Cell Biochemistry and Biophysics, 2015

Vestibular dysfunction in DFNB1 deafness.

Dodson KM et al.

American Journal of Medical Genetics. Part A, 2011

Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.

Gravina LP et al.

International Journal of Pediatric Otorhinolaryngology, 2010

Relevance of the A1555G Mutation in the 12S rRNA Gene for Hearing Impairment in Austria.

Ramsebner R et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2007

Relevance of the A1555G mutation in the 12S rRNA gene for hearing impairment in Austria.

Ramsebner R et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2007

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 mutations and degree of hearing loss: a multicenter study.

Snoeckx RL et al.

American Journal of Human Genetics, 2005

GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling.

Frei K et al.

The Laryngoscope, 2005

Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness.

Seeman P et al.

Clinical Genetics, 2004

A genotype-phenotype correlation for GJB2 (connexin 26) deafness.

Cryns K et al.

Journal of Medical Genetics, 2004

Analysis of GJB2 Gene Mutations in 1330 Deafness Cases of Major Ethnic Groups in Northwest China.

Bian P et al.

Inquiry : a Journal of Medical Care Organization, Provision and Financing, 0

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