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Updated: Jul 4, 2025

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

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Published on: August 20, 2019

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异卵性功能丧失的SMC3变种与可变的生长和发育特征有关

Morad Ansari1, Kamli N W Faour2, Akiko Shimamura3

  • 1South East Scotland Genetic Service, Western General Hospital, Edinburgh, UK; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.

HGG advances
|February 1, 2024
PubMed
概括

在SMC3基因中的功能丧失变体导致可变的发育表型,包括智力障碍和生长问题,扩大对凝聚性病变的理解. 这些发现突出了SMC3作为一个具有显著的人口级别不耐受功能丧失突变的顺序不充分基因.

关键词:
在CdLS3中使用.康尼莉亚·德朗格综合征 (Cornelia de Lange综合征) 是一种这就是LoF的意义.在SMC3中,SMC3是SMC3.凝聚力 在凝聚力中功能丧失 - 功能丧失

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