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Published in Scientific reports (03.07.2024)
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The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia)
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Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)
Sazonov, Nikolay N., Bondar, Alexander A., Dzhemileva, Lilya U., Khusnutdinova, Elza K., Posukh, Olga L., Fedorova, Sardana, Nakhodkin, Sergey S., Nikanorova, Alena A., Gotovtsev, Nyurgun N., Solov’ev, Aisen V., Teryutin, Fedor M., Romanov, Georgii P., Barashkov, Nikolay A., Pshennikova, Vera G., Morozov, Igor V.
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High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect
Zytsar, Marina V, Bady-Khoo, Marita S, Danilchenko, Valeriia Yu, Maslova, Ekaterina A, Barashkov, Nikolay A, Morozov, Igor V, Bondar, Alexander A, Posukh, Olga L
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Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia
Zytsar, Marina V, Barashkov, Nikolay A, Bady-Khoo, Marita S, Shubina-Olejnik, Olga A, Danilenko, Nina G, Bondar, Alexander A, Morozov, Igor V, Solovyev, Aisen V, Danilchenko, Valeriia Yu, Maximov, Vladimir N, Posukh, Olga L
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Published in BMC medical genetics (07.08.2018)
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Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia)
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Published in PloS one (15.04.2016)
Published in PloS one (15.04.2016)
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Different Rates of the SLC26A4 -Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia)
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A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259) in the MITF gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia)
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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, Olga L, Zytsar, Marina V, Bady-Khoo, Marita S, Danilchenko, Valeria Yu, Maslova, Ekaterina A, Barashkov, Nikolay A, Bondar, Alexander A, Morozov, Igor V, Maximov, Vladimir N, Voevoda, Michael I
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Published in Genes (05.06.2019)
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Published in IEEE journal of selected topics in quantum electronics (01.11.2024)
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