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Unique Mutational Spectrum of the GJB2 Gene and its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys).
Posukh OL, Zytsar MV, Bady-Khoo MS, Danilchenko VY, Maslova EA, Barashkov NA, Bondar AA, Morozov IV, Maximov VN, Voevoda MI. Posukh OL, et al. Among authors: bady khoo ms. Genes (Basel). 2019 Jun 5;10(6):429. doi: 10.3390/genes10060429. Genes (Basel). 2019. PMID: 31195736 Free PMC article.
Opinions of hearing parents about the causes of hearing impairment of their children with biallelic GJB2 mutations.
Solovyev AV, Dzhemileva LU, Posukh OL, Barashkov NA, Bady-Khoo MS, Lobov SL, Popova NY, Romanov GP, Sazonov NN, Bondar AA, Morozov IV, Tomsky MI, Fedorova SA, Khusnutdinova EK. Solovyev AV, et al. Among authors: bady khoo ms. J Community Genet. 2017 Jul;8(3):167-171. doi: 10.1007/s12687-017-0299-3. Epub 2017 Mar 21. J Community Genet. 2017. PMID: 28324246 Free PMC article.