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Updated: Jun 10, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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RNA结合蛋白PRRC2B的功能丧失导致翻译缺陷和先天性心血管形

Debojyoti Das1, Eng-Soon Khor1, Feng Jiang1,2

  • 1Aab Cardiovascular Research Institute, Department of Medicine, University of Rochester School of Medicine & Dentistry, Rochester, NY 14642.

medRxiv : the preprint server for health sciences
|October 14, 2024
PubMed
概括

富含蛋白质2B (PRRC2B) 的替代拼接对心脏发育产生影响. 在小鼠中,PRRC2B的丧失会导致先天性心脏缺陷和新生儿死亡,突出其在心血管健康中的作用.

关键词:
在PRRC2B的基础上,这是一种RNA结合蛋白.遗传性心脏病是一种先天性心脏病.人类突变的人类突变翻译翻译翻译翻译翻译翻译

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