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Updated: Sep 19, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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基因组第一方法用于罕见和常见的胸前大动脉动脉瘤和剖析风险变体

John DePaolo1, Diane T Smelser2, Dongchuan Guo3

  • 1Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

medRxiv : the preprint server for health sciences
|June 6, 2025
PubMed
概括

遗传性胸前大动脉动脉瘤和剖析 (HTAAD) 基因中的罕见病原体变异在一般人群中显著增加TAAD风险. 多基因风险得分可能会改变这种风险,表明对TAAD的复杂遗传贡献.

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