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SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia.
Musa H, Kline CF, Sturm AC, Murphy N, Adelman S, Wang C, Yan H, Johnson BL, Csepe TA, Kilic A, Higgins RS, Janssen PM, Fedorov VV, Weiss R, Salazar C, Hund TJ, Pitt GS, Mohler PJ. Musa H, et al. Among authors: yan h. Proc Natl Acad Sci U S A. 2015 Oct 6;112(40):12528-33. doi: 10.1073/pnas.1516430112. Epub 2015 Sep 21. Proc Natl Acad Sci U S A. 2015. PMID: 26392562 Free PMC article.
Potassium channel dysfunction in human neuronal models of Angelman syndrome.
Sun AX, Yuan Q, Fukuda M, Yu W, Yan H, Lim GGY, Nai MH, D'Agostino GA, Tran HD, Itahana Y, Wang D, Lokman H, Itahana K, Lim SWL, Tang J, Chang YY, Zhang M, Cook SA, Rackham OJL, Lim CT, Tan EK, Ng HH, Lim KL, Jiang YH, Je HS. Sun AX, et al. Among authors: yan h. Science. 2019 Dec 20;366(6472):1486-1492. doi: 10.1126/science.aav5386. Science. 2019. PMID: 31857479 Free PMC article.
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