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Updated: May 15, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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在一般人群中罕见的渐进性心脏导电性疾病变体的表型表现

Ravi A Shah1, Julia Ramírez2,3,4, Claire Kirkby5

  • 1Institute of Cardiovascular Science, University College London, London, United Kingdom.

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
|May 13, 2025
PubMed
概括

对家族性渐进性心脏导电性疾病 (PCCD) 的罕见变异增加了疾病风险. 将多基因风险评分 (PRS) 与变异状态相结合,可以提高对导电缺陷的预测.

关键词:
在此之前,心房门阻塞.英国生物银行遗传风险评分 遗传风险评分遗传性心血管疾病是一种遗传性心血管疾病.穿透 穿透 穿透 穿透

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