Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss
Jiale Xiang, Xiangzhong Sun, Nana Song, Sathishkumar Ramaswamy, Ahmad Abou Tayoun, Zhiyu Peng
Topics & Concepts
BiologyMissense mutationGeneticsPhenotypeHearing lossGenetic heterogeneitySingle-nucleotide polymorphismGenetic variationLocus (genetics)GenotypeGeneAudiologyMedicineConnexins and lens biologyHearing, Cochlea, Tinnitus, GeneticsIon channel regulation and function