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Updated: Sep 20, 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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[长QT综合征:诊断和管理的关键方法]

Peter J Schwartz1, Federica Dagradi1, Fulvio L F Giovenzana1

  • 1Centro per lo Studio e la Cura delle Aritmie Cardiache di Origine Genetica, Istituto Auxologico Italiano IRCCS, Milano.

Giornale italiano di cardiologia (2006)
|May 28, 2025
PubMed
概括

长QT综合征 (LQTS) 是一种遗传性心脏病,具有高风险的突然死亡. 有效的诊断和管理,包括定期重新评估,对于患者过上正常生活至关重要.

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