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Updated carrier rates for c.35delG ( GJB2 ) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0650-5
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- Article
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.
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- Genes, 2020, v. 11, n. 7, p. 833, doi. 10.3390/genes11070833
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- Article
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).
- Published in:
- Genes, 2019, v. 10, n. 6, p. 429, doi. 10.3390/genes10060429
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- Article
Different Rates of the SLC26A4 -Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia).
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- Diagnostics (2075-4418), 2021, v. 11, n. 12, p. 2378, doi. 10.3390/diagnostics11122378
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- Article
A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia.
- Published in:
- Human Genetics, 2022, v. 141, n. 3/4, p. 697, doi. 10.1007/s00439-021-02405-w
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- Article