Ontology highlight
ABSTRACT:
SUBMITTER: Martinez-Barrios E
PROVIDER: S-EPMC9902310 | biostudies-literature | 2023 Mar
REPOSITORIES: biostudies-literature
Martinez-Barrios Estefanía E Sarquella-Brugada Georgia G Perez-Serra Alexandra A Fernandez-Falgueras Anna A Cesar Sergi S Alcalde Mireia M Coll Mónica M Puigmulé Marta M Iglesias Anna A Ferrer-Costa Carles C Del Olmo Bernat B Picó Ferran F Lopez Laura L Fiol Victoria V Cruzalegui José J Hernandez Clara C Arbelo Elena E Díez-Escuté Nuria N Cerralbo Patricia P Grassi Simone S Oliva Antonio A Toro Rocío R Brugada Josep J Brugada Ramon R Campuzano Oscar O
International journal of legal medicine 20230125 2
Sudden death cases in the young population remain without a conclusive cause of decease in almost 40% of cases. In these situations, cardiac arrhythmia of genetic origin is suspected as the most plausible cause of death. Molecular autopsy may reveal a genetic defect in up to 20% of families. Most than 80% of rare variants remain classified with an ambiguous role, impeding a useful clinical translation. Our aim was to update rare variants originally classified as of unknown significance to clarif ...[more]