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Updated: Jul 21, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Published on: August 15, 2019

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在一般人群中DDX41基因变异的发病率和重要性

Sruthi Cheloor Kovilakam1,2, Muxin Gu1,2, William G Dunn1,2,3

  • 1Wellcome-MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, United Kingdom.

Blood
|July 28, 2023
PubMed
概括

在DDX41基因中的生殖系变异显著增加患有骨髓质疏松综合征 (MDS) 和急性骨髓性白血病 (AML) 的风险. 较高的平均红细胞体积和体质DDX41突变可以帮助识别具有更高风险的载体.

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