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Updated: Jun 27, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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与单一性疾病相关的基因中预测的功能丧失变异的聚类可以解释不完全的透率

Robin N Beaumont1, Gareth Hawkes2, Adam C Gunning2,3

  • 1Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, EX1 2LU, UK. r.beaumont@exeter.ac.uk.

Genome medicine
|April 26, 2024
PubMed
概括

遗传变异位置影响疾病相关性. 在特定基因区域中预测的功能丧失 (pLoF) 变异可能解释在门德尔条件下不完全透,突出显示在变异解释中需要局部约束指标.

关键词:
约束 约束 约束发育障碍 发育障碍 发展障碍基因组医学是一种基因组医学.透性 透性 透性变体解释的变体解释

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