Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.I20T
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GJB6

NM_001110219.3:p.I20T

Associated Papers

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

Bioinformatic Analysis of GJB2 Gene Missense Mutations.

Yilmaz A

Cell Biochemistry and Biophysics, 2015

New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation.

Stanghellini I et al.

Genetic Testing and Molecular Biomarkers, 2014

[Genetic testing and counselling in inherited eye disease].

Brøndum-Nielsen K et al.

Ugeskrift for Laeger, 2013

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

Snoeckx RL et al.

American Journal of Human Genetics, 2005

GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment.

Grønskov K et al.

Genetic Testing, 2004

Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria.

Janecke AR et al.

Human Genetics, 2002

Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.

Löffler J et al.

European Journal of Human Genetics : Ejhg, 2001

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.

Kenneson A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

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