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在胸前大动脉剖析病例和带有负遗传检测结果的马方综合征中存在非正规拼接变体

David R Murdock1, Dong-Chuan Guo1, John S DePaolo2

  • 1Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston (UTHealth), Houston, Texas, USA.

NPJ genomic medicine
|March 22, 2025
PubMed
概括

非正典拼接变体 (NCVAS) 是遗传性胸前大动脉疾病 (HTAD) 的未被认可的原因,导致大动脉剖析. 先进的拼接预测工具可以改善这些复杂的大动脉疾病的遗传诊断.

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