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Updated: Jul 23, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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在冰岛对与QTc间隔相关的罕见编码变体进行查

Gardar Sveinbjornsson1, Bara D Benediktsdottir2, Gunnlaugur Sigfusson3

  • 1deCODE Genetics/Amgen, Inc. Reykjavik Iceland.

Journal of the American Heart Association
|July 14, 2023
PubMed
概括

长QT综合征 (LQTS) 的遗传变异比以前认为的更为常见,其中一些与严重的心脏事件有关. 了解变异影响有助于更好地评估长QT综合征患者的风险和临床管理.

关键词:
遗传流行病学遗传流行病学遗传学 遗传学 遗传学 是一个长QT综合征是什么精准医学是一门精准医学.

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