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Page 1
Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.
Biomolecules. 2023 Oct 13;13(10):1521. doi: 10.3390/biom13101521.
Biomolecules. 2023.
PMID: 37892203
Free PMC article.
Review.
Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss.
Maslova EA, Orishchenko KE, Posukh OL.
Maslova EA, et al.
Biomolecules. 2021 Jan 5;11(1):61. doi: 10.3390/biom11010061.
Biomolecules. 2021.
PMID: 33466560
Free PMC article.
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Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss.
Danilchenko VY, Zytsar MV, Maslova EA, Posukh OL.
Danilchenko VY, et al. Among authors: maslova ea.
Int J Mol Sci. 2022 Nov 3;23(21):13453. doi: 10.3390/ijms232113453.
Int J Mol Sci. 2022.
PMID: 36362242
Free PMC article.
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Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia).
Danilchenko VY, Zytsar MV, Maslova EA, Orishchenko KE, Posukh OL.
Danilchenko VY, et al. Among authors: maslova ea.
Genes (Basel). 2023 Apr 17;14(4):928. doi: 10.3390/genes14040928.
Genes (Basel). 2023.
PMID: 37107686
Free PMC article.
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Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia).
Danilchenko VY, Zytsar MV, Maslova EA, Bady-Khoo MS, Barashkov NA, Morozov IV, Bondar AA, Posukh OL.
Danilchenko VY, et al. Among authors: maslova ea.
Diagnostics (Basel). 2021 Dec 17;11(12):2378. doi: 10.3390/diagnostics11122378.
Diagnostics (Basel). 2021.
PMID: 34943614
Free PMC article.
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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 MV, Bady-Khoo MS, Danilchenko VY, Maslova EA, Barashkov NA, Morozov IV, Bondar AA, Posukh OL.
Zytsar MV, et al. Among authors: maslova ea.
Genes (Basel). 2020 Jul 21;11(7):833. doi: 10.3390/genes11070833.
Genes (Basel). 2020.
PMID: 32708339
Free PMC article.
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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: maslova ea.
Genes (Basel). 2019 Jun 5;10(6):429. doi: 10.3390/genes10060429.
Genes (Basel). 2019.
PMID: 31195736
Free PMC article.
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