Publications:

Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region.

European Heart Journal

Schwartz, Peter J PJ; Moreno, Cristina C; Kotta, Maria-Christina MC; Pedrazzini, Matteo M; Crotti, Lia L; Dagradi, Federica F; Castelletti, Silvia S; Haugaa, Kristina H KH; Denjoy, Isabelle I; Shkolnikova, Maria A MA; Brink, Paul A PA; Heradien, Marshall J MJ; Seyen, Sandrine R M SRM; Spätjens, Roel L H M G RLHMG; Spazzolini, Carla C; Volders, Paul G A PGA

Publication Date: 2021-12-07

Variant appearance in text: LQT1: G348D

PubMed Link: 34505893

Variant Present in the following documents:

• Main text

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Cardiac Evaluation of Children With a Family History of Sudden Death.

Journal Of The American College Of Cardiology

Webster, Gregory G; Olson, Rachael R; Schoppen, Zachary J ZJ; Giancola, Nicholas N; Balmert, Lauren C LC; Cherny, Sara S; George, Alfred L AL

Publication Date: 2019-08-13

Variant appearance in text: KCNQ1: Gly348Asp

PubMed Link: 31395126

Variant Present in the following documents:

• Main text

View BVdb publication page