Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the <i>GJB2</i> (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss

by Ekaterina A. Maslova, Konstantin E. Orishchenko, Olga L. Posukh
Published 2021-01-01

High Rates of Three Common <i>GJB2</i> Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect

by Marina V. Zytsar, Marita S. Bady-Khoo, Valeriia Yu. Danilchenko, Ekaterina A. Maslova, Nikolay A. Barashkov, Igor V. Morozov, Alexander A. Bondar, Olga L. Posukh
Published 2020-07-01

Unique Mutational Spectrum of the <i>GJB2</i> Gene and Its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G&gt;...

by Olga L. Posukh, Marina V. Zytsar, Marita S. Bady-Khoo, Valeria Yu. Danilchenko, Ekaterina A. Maslova, Nikolay A. Barashkov, Alexander A. Bondar, Igor V. Morozov, Vladimir N. Maximov, Michael I. Voevoda
Published 2019-06-01