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Updated: Jul 25, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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[患有EAST/SeSAME综合征的儿童的临床特征和遗传分析]

Guangyu Zhang1, Mingmei Wang, Gongxun Chen

  • 1Department of Pediatric Rehabilitation, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. zhudengna@126.com.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
|June 27, 2023
PubMed
概括

基因测试在患有EAST/SeSAME综合征的儿童中发现了复合异构基因KCNJ10基因变异,证实了,无氧,聋和智力障碍的遗传基础.

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