Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign

Autor: Clemens, Daniel J., Lentino, Anne R., Kapplinger, Jamie D., Ye, Dan, Zhou, Wei, Tester, David J., Ackerman, Michael J.
Zdroj: In Heart Rhythm April 2018 15(4):555-561
Databáze: ScienceDirect