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Updated: Jul 2, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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1型长QT综合征的临床特征由C端Kv7.1变异引起的1型长QT综合征

Asami Kashiwa1, Hideki Itoh2, Takeru Makiyama3

  • 1Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan; Department of Cardiology, Niigata City General Hospital, Niigata, Japan.

Heart rhythm
|February 17, 2024
PubMed
概括

在KCNQ1基因中的变异位置影响长QT综合征 (LQTS) 的预后. 特定的C端变异,如p.R366W和p.T587M,与LQTS患者的心律失常结果的恶化有关.

关键词:
节律失常的风险 节律失常的风险在C端末.创始人效应是什么Kv7.1 Kv7.1 这是一个很大的问题.长时间QT综合征

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