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pro vyhledávání: '"Shelley Falik"'
Autor:
Elijah R. Behr, Kirsten Bartels, David J. Tester, Greg Mellor, Shubhayan Sanatani, Seshadri Balaji, Christopher S. Simpson, Pankaj Panwar, Christian Steinberg, Ngai Shing Mok, Richard Leather, Julie Hathaway, Andrew D. Krahn, Craig T. January, Christopher C. Erickson, Shelley Falik, Raul Weiss, Paul L. Eugenio, George McDaniel, Arthur A.M. Wilde, Nicole J. Boczek, Jason D. Roberts, Robert M. Hamilton, Elizabeth S. Kaufman, Zachary Laksman, Andrea K Y Lee, Susan Christian, Andrew E. Radbill, Michael J. Ackerman, Filip Van Petegem
Publikováno v:
EP Europace, 21(11), 1725-1732. Oxford University Press
Aims Pathogenic gain-of-function variants in CACAN1C cause type-8 long QT syndrome (LQT8). We sought to describe the electrocardiographic features in LQT8 and utilize molecular modelling to gain mechanistic insights into its genetic culprits. Methods