KCNQ1 c.40_42del ;(p.R14del)

Variant ID: 11-2466368-GCGC-G

NM_000218.2(KCNQ1):c.40_42del;(p.R14del)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Basic Research Approaches to Evaluate Cardiac Arrhythmia in Heart Failure and Beyond.

Frontiers In Physiology
Cumberland, Max J MJ; Riebel, Leto L LL; Roy, Ashwin A; O'Shea, Christopher C; Holmes, Andrew P AP; Denning, Chris C; Kirchhof, Paulus P; Rodriguez, Blanca B; Gehmlich, Katja K
Publication Date: 2022

Variant appearance in text: KCNQ1: Arg14del
PubMed Link: 35197863
Variant Present in the following documents:
  • fphys-13-806366.pdf
View BVdb publication page



Cardiogenetics, 25 years a growing subspecialism.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation
Wilde, A A M AAM; Nannenberg, E E; van der Werf, C C
Publication Date: 2020-08

Variant appearance in text: LQT1: R14del
PubMed Link: 32780330
Variant Present in the following documents:
  • 12471_2020_Article_1444.pdf
View BVdb publication page



Inherited cardiac diseases, pluripotent stem cells, and genome editing combined-the past, present, and future.

Stem Cells (Dayton, Ohio)
van den Brink, Lettine L; Grandela, Catarina C; Mummery, Christine L CL; Davis, Richard P RP
Publication Date: 2020-02

Variant appearance in text: LQT1: R14del
PubMed Link: 31664757
Variant Present in the following documents:
  • STEM-38-174-s001.pdf
View BVdb publication page



Investigating pediatric disorders with induced pluripotent stem cells.

Pediatric Research
Durbin, Matthew D MD; Cadar, Adrian G AG; Chun, Young Wook YW; Hong, Charles C CC
Publication Date: 2018-10

Variant appearance in text: KCNQ1: R14del
PubMed Link: 30065271
Variant Present in the following documents:
  • Main text
View BVdb publication page



Low Resting Membrane Potential and Low Inward Rectifier Potassium Currents Are Not Inherent Features of hiPSC-Derived Cardiomyocytes.

Stem Cell Reports
Horváth, András A; Lemoine, Marc D MD; Löser, Alexandra A; Mannhardt, Ingra I; Flenner, Frederik F; Uzun, Ahmet Umur AU; Neuber, Christiane C; Breckwoldt, Kaja K; Hansen, Arne A; Girdauskas, Evaldas E; Reichenspurner, Hermann H; Willems, Stephan S; Jost, Norbert N; Wettwer, Erich E; Eschenhagen, Thomas T; Christ, Torsten T
Publication Date: 2018-03-13

Variant appearance in text: KCNQ1: R14del
PubMed Link: 29429959
Variant Present in the following documents:
  • main.pdf
  • mmc2.pdf
View BVdb publication page



Ion channels as part of macromolecular multiprotein complexes : Clinical significance.

Herzschrittmachertherapie & Elektrophysiologie
Heijman, Jordi J; Dobrev, Dobromir D
Publication Date: 2018-03

Variant appearance in text: Kv7.1: Arg14del
PubMed Link: 29214349
Variant Present in the following documents:
  • Main text
  • 399_2017_Article_542.pdf
View BVdb publication page



Differential Sarcomere and Electrophysiological Maturation of Human iPSC-Derived Cardiac Myocytes in Monolayer vs. Aggregation-Based Differentiation Protocols.

International Journal Of Molecular Sciences
Jeziorowska, Dorota D; Fontaine, Vincent V; Jouve, Charlène C; Villard, Eric E; Dussaud, Sébastien S; Akbar, David D; Letang, Valérie V; Cervello, Pauline P; Itier, Jean-Michiel JM; Pruniaux, Marie-Pierre MP; Hulot, Jean-Sébastien JS
Publication Date: 2017-06-01

Variant appearance in text: KCNQ1: r14del
PubMed Link: 28587156
Variant Present in the following documents:
  • ijms-18-01173.pdf
View BVdb publication page