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)

Những quyển sách tương tự

• 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
  Bằng: Zytsar, Marina V., et al.
  Được phát hành: (2020)
• Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss
  Bằng: Maslova, Ekaterina A., et al.
  Được phát hành: (2021)
• Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia
  Bằng: Zytsar, Marina V., et al.
  Được phát hành: (2018)
• Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)
  Bằng: Pshennikova, Vera G., et al.
  Được phát hành: (2019)
• Opinions of hearing parents about the causes of hearing impairment of their children with biallelic GJB2 mutations
  Bằng: Solovyev, Aisen V., et al.
  Được phát hành: (2017)