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Updated: Jan 15, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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在TMEM17中双变异会导致病谱内的梅克尔-格鲁伯综合征

Luba M Pardo1, Javier Martini1, Emir Zonic1

  • 1CENTOGENE GmbH, Rostock, Germany.

Clinical genetics
|October 7, 2025
PubMed
概括

在TMEM17中双变异会导致严重的梅克尔-格鲁伯综合征 (MGS) 和其他原发性纤毛病. 这项研究升级了TMEM17基因与疾病的关联,扩大了已知的表型谱,并表明了基因型与表型的相关性.

关键词:
在TEMEM17中,TEMEM17是TEMEM.梅克尔·格鲁伯综合征 (MGS) 是一种基因与疾病的关系主要的纤毛病变.

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