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Updated: Jul 13, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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一种同卵性框架转移变体扩大了SAMD9基因缺陷的临床谱

Cybel Mehawej1, Maroun Ibrahim2, Lynn Khalife2

  • 1Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.

Clinical genetics
|October 13, 2023
PubMed
概括

这项研究在SAMD9基因中发现了一种新型的同卵性框架转移变异,该变异在儿童中引起严重的多系统性疾病. 这一发现扩大了已知的SAMD9相关疾病谱,并强调了该基因在人类健康中的关键作用.

关键词:
在SAMD9中,SAMD9是什么?发烧 发烧 发烧增长减缓 增长减缓 增长减缓这是一种炎症炎症炎症炎症.功能丧失 功能丧失 功能丧失整个基因组的测序.

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