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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)Age-Related Hearing Impairment (ARHI) associated with GJB2 single mutation IVS1+1G>A in the Yakut population isolate in Eastern Siberia.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.A serological survey of echinococcosis, toxocariasis and trichinellosis among rural inhabitants of Central YakutiaA 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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description
researcher ORCID ID = 0000-0002-8659-0886
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wetenschapper
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name
Fedor M Teryutin
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Fedor M Teryutin
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Fedor M Teryutin
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type
label
Fedor M Teryutin
@ast
Fedor M Teryutin
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Fedor M Teryutin
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prefLabel
Fedor M Teryutin
@ast
Fedor M Teryutin
@en
Fedor M Teryutin
@nl
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0000-0002-8659-0886