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Updated: Jun 9, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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在WDR83OS的同卵性变体导致神经发育障碍与高胆血症

Scott Barish1, Sheng-Jia Lin2, Reza Maroofian3

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

American journal of human genetics
|October 29, 2024
PubMed
概括

在WDR83OS中双性功能丧失变体会导致神经发育障碍,肝功能障碍和胆酸升高. 这项研究确定了新的患者和斑马鱼模型,证实了WDR83OSOS.

关键词:
阿斯特里克斯 (ASTERIX) 是一个星座.CCDC47 疾病预防控制中心在ER转移的转移.这是一个PAT复合体.这就是WDR83OSOS.发育延迟的发展延迟.过度胆血症是什么意思智力障碍 智力障碍是一种智力障碍.和的情况 和

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