Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study
Publicaciones de socios | Comisión de investigación
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Fecha de publicación
01/04/2021
Autores
Sana Amanat, Álvaro Gallego-Martinez, Joseph Sollini, Patricia Perez-Carpena, Juan M. Espinosa-Sanchez, Ismael Aran, Andres Soto-Varela, Angel Batuecas,...
Área de la especialidad
Datos bibliográficos
Amanat S, Gallego-Martinez A, Sollini J, et al. Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study. EBioMedicine. 2021;66:103309. doi:10.1016/j.ebiom.2021.103309
Abstract
A burden of rare variants in ANK2, AKAP9 and TSC2 genes is associated with severe tinnitus. ANK2, encodes a cytoskeleton scaffolding protein that coordinates the assembly of several proteins, drives axonal branching and influences connectivity in neurons.