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Updated: Jun 12, 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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罕见疾病中的复杂特征关联以及对孟德尔变异解释的影响

Craig Smail1,2, Bing Ge3, Marissa R Keever-Keigher4

  • 1Genomic Medicine Center, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, USA. csmail@cmh.edu.

Nature communications
|September 18, 2024
PubMed
概括

通过多基因分数 (PGS) 测量的常见遗传变异与罕见疾病有关. 这项研究揭示了广泛的关联,并表明PGS影响疾病呈现和变异透率.

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