1 | KCNJ5, LQT13
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| A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1.
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| Kokunai Y, Nakata T, Furuta M, Sakata S, Kimura H, Aiba T, Yoshinaga M, Osaki Y, Nakamori M, Itoh H, Sato T, Kubota T, Kadota K, Shindo K, Mochizuki H, Shimizu W, Horie M, Okamura Y, Ohno K, Takahashi MP.
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| Neurology 82(12):1058-64. doi: 10.1212/WNL.0000000000000239. Epub 2014 Feb 26.
2014
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2 | KCNJ5, LQT13
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| The phenotype characteristics of type 13 long QT syndrome with mutation in KCNJ5 (Kir3.4-G387R).
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| Wang F, Liu J, Hong L, Liang B, Graff C, Yang Y, Christiansen M, Olesen SP, Zhang L, Kanters JK.
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| Heart Rhythm 10(10):1500-6. doi: 10.1016/j.hrthm.2013.07.022. Epub 2013 Jul 18.
2013
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3 | KCNJ5, LQT13
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| Identification of a Kir3.4 mutation in congenital long QT syndrome.
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| Yang Y, Yang Y, Liang B, Liu J, Li J, Grunnet M, Olesen SP, Rasmussen HB, Ellinor PT, Gao L, Lin X, Li L, Wang L, Xiao J, Liu Y, Liu Y, Zhang S, Liang D, Peng L, Jespersen T, Chen YH.
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| Am J Hum Genet 86(6):872-80.PMID: 20560207 2010
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