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Updated: Jun 12, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Published on: August 15, 2019

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ERBB2 c.1795C>T,p.Arg599Cys变体与人类的左心室外流通道阻塞缺陷有关

Minna Ampuja1, Sabina Ericsson1, Ilkka Paatero2

  • 1Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.

HGG advances
|May 7, 2025
PubMed
概括

一种罕见的ERBB2基因变异 (c.1795C>T,p.Arg599Cys) 与家族性先天性心脏缺陷 (CHD) 有关,特别是左心室外流通道阻塞. 这种变异导致ERBB2的错位化,导致斑马鱼和人类细胞的心脏异常,表明ERBB2的存在.

关键词:
在ERBB2中,它是ERBB2.有先天性心脏缺陷.出生形 遗传形 出生形 遗传形人类诱导的多能干细胞干细胞.低可塑性左心综合征是什么蛋白质 蛋白质 相互作用 相互作用一个单细胞RNA测序.斑马鱼是一种斑马鱼.

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