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Updated: Jun 12, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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在患有胸腔大动脉动脉瘤的患者中基因检测指南的临床有效性

Ely Erez1, Adrian R Acuna Higaki1, Michela Cupo1

  • 1Division of Cardiac Surgery, Department of Surgery, Yale School of Medicine, New Haven, Conn.

The Journal of thoracic and cardiovascular surgery
|September 25, 2024
PubMed
概括

分析了当前对胸前动脉动脉瘤 (TAD) 的遗传测试指南. 改进标准并专注于主要基因可以改善风险分层并减少不确定的遗传发现.

关键词:
动脉动脉瘤是一个动脉瘤.大动脉的动脉.解剖 解剖 解剖 解剖遗传学 遗传学 遗传学 遗传学 是一个这些指导方针是指导方针.突变是发生在突变中的突变.测试 测试 测试 测试 测试

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