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Updated: May 28, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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在布鲁加达综合征中SCN5A变异类型依赖风险预测

Takanori Aizawa1, Takeru Makiyama1, Hai Huang1

  • 1Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, 54 Shogoin Kawahara-cho, Sakyo-ku, Kyoto 606-8507, Japan.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
|February 11, 2025
PubMed
概括

与误解变体相比,布鲁加达综合征患者的SCN5A非误解变体对致命性心律失常事件的风险更高,影响心脏导电障碍的严重程度.

关键词:
这是SCN5A.布鲁加达综合征是什么致命性心律失常事件发生.功能丧失 功能丧失变种类型的变种类型

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