Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.T186M
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GJB2

NM_004004.6:p.T186M

Associated Papers

Wan Du et al. - Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants. Acta Oto-Laryngol 2014; 134: 373-381.

Hellström S

Acta Oto-laryngologica, 2018

Bioinformatic Analysis of GJB2 Gene Missense Mutations.

Yilmaz A

Cell Biochemistry and Biophysics, 2015

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

High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.

Kothiyal P et al.

Bmc Biotechnology, 2010

20146813 (PubMed )
Supplement: 1472-6750-10-10-S1.PDF

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

Frei K et al.

The Laryngoscope, 2005

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