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Updated: Jul 19, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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在先天性长QT综合征中的遗传变异注释得分

Arwa Younis1,2, Christopher Bodurian1, Dan E Arking3

  • 1Clinical Cardiovascular Research Center, University of Rochester Medical Center, Rochester, New York, USA.

Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc
|August 12, 2023
PubMed
概括

遗传变异得分可以准确地识别长QT综合征 (LQTS) 突变,但不能预测心脏事件. 突变的位置和功能对于评估LQTS患者风险至关重要.

关键词:
电生理学 - 长QT综合征电生理学 - 心脏骤停/突然死亡分子生物学/遗传学 分子生物学/遗传学

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