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Updated: Jul 12, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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新的移变异扩展了IRF2BP2中的遗传缺陷的地图

José María García-Aznar1, Emilia Maneiro Pampín1, Maite García Ramos1

  • 1Department of Immunology, Health in Code, A Coruña, Galicia, Spain.

Frontiers in immunology
|October 25, 2023
PubMed
概括

在IRF2BP2中发现了五种新的突变,导致一次性免疫缺陷,特别是常见变量免疫缺陷 (CVID). 这些遗传发现扩大了我们对IRF2BP2相关疾病及其各种临床表现的理解.

关键词:
在CVID中,我们可以看到.在 IRF2BP2BP2 中,您可以使用 IRF2BP2大肠炎是一种大肠炎.功能丧失突变的突变原发性免疫缺陷是一种免疫缺陷.

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