The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans

AR Kim, J Chung, NKD Kim, C Lee, WY Park, DY Oh… – International Journal of …, (2017) The Analysis of A Frequent TMPRSS3 Allele Containing P. V116M and P. V291L in A Cis Configuration among Deaf Koreans We performed targeted re-sequencing to identify the genetic etiology of early-onset postlingual deafness and encountered a frequent TMPRSS3 allele harboring two variants in a cisconfiguration. We aimed to evaluate the pathogenicity of the allele. Among 88 cochlear implantees