We present the results of a complex assessment of the pathogenetic significance of novel variant c.516G>C (p.Trp172Cys) of the GJB2 gene found with high frequency in deaf patients from the Tyva and Altai Republics. Several lines of evidences support pathogenicity of this variant due to its damaging effect on the structure and functioning of connexin 26 (Cx26).
|Translated title of the contribution||Complex assessment of the pathogenetic significance of variant с.516G>C (p.Trp172Cys) in the GJB2 gene which is associated with hereditary hearing loss in indigenous population of Southern Siberia|
|Number of pages||3|
|Publication status||Published - 2020|
- 3.01 BASIC MEDICAL RESEARCH
- 1.06 BIOLOGICAL SCIENCES
State classification of scientific and technological information
- 76 MEDICINE AND HEALTH CARE