Functional and clinical characterization of a novel homozygous KCNH2 missense variant in the pore region of Kv11.1 leading to a viable but severe long-QT syndrome

Autor: Delinière, Antoine, Jaupart, Laureen, Janin, Alexandre, Millat, Gilles, Boulin, Thomas, Andrini, Olga, Chevalier, Philippe
Zdroj: In Gene 1 March 2024 897
Databáze: ScienceDirect