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Updated: Jul 7, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

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在M频段编码外子中的双切断TTN变体会导致胎儿致命的滴病变

Ming-Wei Li1, Fan Li1, Zhen-Xing Cheng2

  • 1Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui University of Science and Technology, Huainan, Anhui, China.

Prenatal diagnosis
|December 26, 2023
PubMed
概括

这项研究确定了两种新的TTN基因变异,导致胎儿衰退型头病,扩大了这种疾病的已知遗传原因. 这些发现扩大了对TTN相关疾病及其临床表现的理解.

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