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Non-missense variants of KCNH2 show better outcomes in type 2 long QT syndrome
AIMS: More than one-third of type 2 long QT syndrome (LQT2) patients carry KCNH2 non-missense variants that can result in haploinsufficiency (HI), leading to mechanistic loss-of-function. However, their clinical phenotypes have not been fully investigated. The remaining two-thirds of patients harbou...
Autores principales: | Aizawa, Takanori, Wada, Yuko, Hasegawa, Kanae, Huang, Hai, Imamura, Tomohiko, Gao, Jingshan, Kashiwa, Asami, Kohjitani, Hirohiko, Fukuyama, Megumi, Kato, Koichi, Kato, Eri Toda, Hisamatsu, Takashi, Ohno, Seiko, Makiyama, Takeru, Kimura, Takeshi, Horie, Minoru |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10105889/ https://www.ncbi.nlm.nih.gov/pubmed/36861347 http://dx.doi.org/10.1093/europace/euac269 |
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