Dopad varianty S1021Qfs*98-hERG na funkci proteinu Kv11.1

Janková,  Natálie; Král,  Martin; Švecová,  Olga; Pacherník,  Jiří; Novotný,  Tomáš; Bébarová,  Markéta

Dopad varianty S1021Qfs*98-hERG na funkci proteinu Kv11.1

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Title in English	Impact of S1021Qfs*98-hERG variant on the function of Kv11.1 protein
Authors	JANKOVÁ Natálie KRÁL Martin ŠVECOVÁ Olga PACHERNÍK Jiří NOVOTNÝ Tomáš BÉBAROVÁ Markéta
Year of publication	2024
Type	Conference abstract
MU Faculty or unit	Faculty of Medicine
Citation
Description	Loss-of-function character of the S1021Qfs*98-hERG variant was confirmed. Its mechanism was suggested, however, has to be proved in the future.
Related projects:	Funkční hodnocení genetických variant u případů klinicky „skutečné“ idiopatické fibrilace komor: in vitro a in silico modelování s cílem odhalit arytmogenní mechanismus Analysis of (dys)function: from molecules to the living organism