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Updated: Aug 14, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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在生物库规模上对疾病的单基和双基变异影响

H O Heyne1,2,3,4,5, J Karjalainen6,7,8,9,10, K J Karczewski6,7,8,9,10

  • 1Finnish Institute for Molecular Medicine (FIMM), University of Helsinki, Helsinki, Finland. henrike.heyne@hpi.de.

Nature
|January 18, 2023
PubMed
概括

芬兰人口遗传学通过分析同卵性和异卵性效应发现了新的致病变体. 这项研究增强了对孟德尔变异剂量对复杂疾病的影响的理解.

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