A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss.
Ju Sun SongAmel BahloulChristine PetitSang Jin KimIl Joon MoonJinhyuk LeeChange Seok KiPublished in: Annals of laboratory medicine (2020)
A heterozygous variant of USH1C that interferes with the interaction between cdh23 and harmonin causes novel AD-NSHL.