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Updated: Jan 13, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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免疫的单一性疾病:常见的变体并不那么罕见

Vivien Béziat1, Jean-Laurent Casanova2

  • 1Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France; Imagine Institute, Paris-Cité University, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.

Cell genomics
|January 9, 2026
PubMed
概括

常见的遗传变异,不仅仅是罕见的,可以导致免疫的单一性疾病. 这挑战了传统的观点,并建议在诊断免疫疾病时考虑流行性等位基因.

关键词:
在 IEII 中使用.常见的变种是常见的变种.遗传学 遗传学 遗传学 是一个免疫的先天错误 免疫的先天错误人口遗传学 人口遗传学

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