Open AccessWhole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study
Author(s) -
Cláudia Sousa Reis,
Sofia Quental,
Susana Fernandes,
Sérgio Castedo,
Carla Pinto Moura
Publication year - 2022
Publication title -
cytogenetic and genome research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.571
H-Index - 88
ISSN - 1424-8581
DOI - 10.1159/000523840
Subject(s) - sensorineural hearing loss , proband , exome sequencing , genetics , hearing loss , biology , medicine , exome , population , molecular diagnostics , bioinformatics , phenotype , gene , audiology , mutation , environmental health