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Updated: May 27, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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人类肺组织中与COPD相关的nephronectin (NPNT) 功能拼接基因变异的表征通过长时间读取的测序

Aabida Saferali1, Anastacia N Wienecke2, Zhonghui Xu1

  • 1Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA.

The European respiratory journal
|February 20, 2025
PubMed
概括

靠近NPNT基因的遗传变异通过改变肺组织中的RNA拼接来增加慢性阻塞性肺病 (COPD) 风险. 这项研究揭示了特定的遗传变化如何影响NPNT基因功能,并有助于COPD的发展.

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