Translational diagnostics: an in-house pipeline to validate genetic variants in children with undiagnosed and rare diseases

Publication date: Available online 24 October 2020Source: The Journal of Molecular DiagnosticsAuthor(s): Jordi Pijuan, María Rodríguez-Sanz, Daniel Natera-de Benito, Carlos Ortez, Arola Altimir, Mireia Osuna-López, Montserrat Roura, Maddi Ugalde, Liedewei Van de Vondel, Judith Reina-Castillón, Carme Fons, Raúl Benítez, Andrés Nascimento, Janet Hoenicka, Francesc Palau
Source: The Journal of Molecular Diagnostics - Category: Pathology Source Type: research