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Updated: Jun 17, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

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Published on: January 16, 2019

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对与遗传性心脏病相关的SCN5A变异进行系统分析

Alexis Hermida1, Guillaume Jedraszak2, Flavie Ader3

  • 1Cardiology, Arrhythmia, and Cardiac Stimulation Service, Amiens-Picardie University Hospital, Amiens, France; EA4666 HEMATIM, University of Picardie-Jules Verne, Amiens, France; Institute of Cardiology and ICAN Institute for Cardiometabolism and Nutrition, APHP, Pitié-Salpêtrière Hospital, Paris, France; Department of Genetics, Department of Cardiology, and Referral center for hereditary cardiac diseases, APHP, Pitié-Salpêtrière Hospital, Paris, France.

Heart rhythm
|August 12, 2024
PubMed
概括

致病性SCN5A变异主要导致布鲁加达综合征和其他电气障碍. 近20%的SCN5A变种表现出性,突出显示了需要对受影响个体进行彻底的心脏评估的需要.

关键词:
域名 域名 域名覆盖综合征是重叠的综合征.现象类型 现象类型类型的人类.这是SCN5A.

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