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Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic).
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- PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0156300
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Age-Related Hearing Impairment (ARHI) Associated with <i>GJB2</i> Single Mutation IVS1+1G>A in the Yakut Population Isolate in Eastern Siberia.
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- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0100848
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- Article
Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect.
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- Journal of Human Genetics, 2011, v. 56, n. 9, p. 631, doi. 10.1038/jhg.2011.72
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- Article