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)

Gelijkaardige items

• Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss
  door: Maslova, Ekaterina A., et al.
  Gepubliceerd in: (2021)
• 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
  door: Zytsar, Marina V., et al.
  Gepubliceerd in: (2020)
• Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia
  door: Zytsar, Marina V., et al.
  Gepubliceerd in: (2018)
• Comparative analysis of haplotypes carrying pathogenic variants c.1545T>G, c.2027T>A and c.919-2A>G of the <i>SLC26A4</i> gene in patients with hearing loss from the Tyva Republic (Southern Siberia)
  door: V. Yu. Danilchenko, et al.
  Gepubliceerd in: (2025-03-01)
• Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)
  door: Pshennikova, Vera G., et al.
  Gepubliceerd in: (2019)