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Updated: Jun 21, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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评估儿童心肌病的新型致病性预测器的实用性

Alyssa L Rippert1, Sarah Trackman2, Danielle Burstein3

  • 1Division of Human Genetics, Children's Hospital of Philadelphia, Pennsylvania, USA.

Human mutation
|April 14, 2025
PubMed
概括

CardioBoost 评分没有预测儿科心肌病患者的主要不良心脏事件. 这表明在使用这种工具用于儿童风险分层时需要谨慎.

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