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Updated: Jun 11, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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在新变种的背景下,常见的变种增加了先天性隔膜的风险

Lu Qiao1, Carrie L Welch2, Rebecca Hernan3

  • 1Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA; Department of Systems Biology, Columbia University Irving Medical Center, New York, NY 10032, USA.

American journal of human genetics
|September 27, 2024
PubMed
概括

这项研究确定了先天性隔膜 (CDH) 的新遗传因素,这是一个严重的出生缺陷. 遗传分析显示,罕见和常见的变异都会导致CDH风险,支持多基因模型.

关键词:
这是WNT5A.常见的变体 常见的变体生产性腹膜 Hernia 是一种先天性腹膜.在新的变种 de novo 变种.全基因组关联研究研究.一个核酸的多态性.

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