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Updated: Jun 11, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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非热点PIK3CA变体具有更高的变异基频率,并且在综合性血管形中更常见

Themis-Areti A Andreoti1,2, Massimo Maiolo3,4,5, Aleksandra Tuleja2,3

  • 1Division of Pediatric Hematology and Oncology, Department of Pediatrics, Inselspital - University Hospital of Bern, University of Bern, Bern, Switzerland.

American journal of medical genetics. Part A
|October 8, 2024
PubMed
概括

阴性PIK3CA变体与血管形有关. 非热点变异在综合征病例中更常见,并且与热点变异相比,具有更高的变异性等位基因频率.

关键词:
这就是PIK3CA.在PI3K中,PI3K是指PI3K.病原性变异是一种病原性变异.身体突变是一种体质突变.血管形是因为血管形.

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