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Updated: Jul 17, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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[对中国血统中的表型和病原性变异的分析,该血统患有多发性鼻综合征1型]

Wenyuan Zhang1, Lu Mao, Jinhui Zhang

  • 1Department of Otology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. fccchenb@zzu.edu.cn.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
|August 29, 2023
PubMed
概括

在一个中国家庭中,NOG基因的遗传缺失导致了多重同位症综合征1型 (SYNS1). 这一发现凸显了拷贝数变异分析在标准测序失败时诊断SYNS1的重要性.

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