Predicting pathogenicity for novelhearing loss mutations basedon genetic and protein structureapproaches
Paula I. Buonfglio, Carlos D. Bruque, Vanesa Lotersztein, Leonela Luce, FlorenciaGiliberto, Sebastián Menazzi, Liliana Francipane, Bibiana Paoli, ErnestoGoldschmidt, Ana Belén Elgoyhen, Viviana Dalamón Hearing loss is a heterogeneous disorder. Identifcation of causative mutations is demanding due to genetic heterogeneity. In this study, we investigated the genetic cause of sensorineural hearing loss in patients with severe/profound […]