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Updated: Jul 17, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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临床外体序列测序疗效和表型扩张,涉及异常的肺静脉回归

Emily A Huth1, Xiaonan Zhao1,2, Nichole Owen1,2

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.

European journal of human genetics : EJHG
|September 6, 2023
PubMed
概括

基因检测,包括外体测序,有助于诊断异常肺静脉回归 (APVR),当其他异常存在时. 确定了新的基因和副本数变异,有助于理解APVR病因.

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