Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.Y97insFs
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GJB6

NM_001110219.3:p.Y97insFs

Associated Papers

GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran.

Abbaspour Rodbaneh E et al.

Journal of Clinical Laboratory Analysis, 2021

Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions.

Bliznetz EA et al.

Journal of Human Genetics, 2017

Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss.

Beck C et al.

European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2015

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

Mahdieh N et al.

Journal of Human Genetics, 2010

Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients.

Bonyadi M et al.

Genetic Testing and Molecular Biomarkers, 2009

M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.

Pollak A et al.

American Journal of Medical Genetics. Part A, 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

Molecular epidemiology of DFNB1 deafness in France.

Roux AF et al.

Bmc Medical Genetics, 2004

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