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Updated: Jan 8, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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内部分支点到接受器的变体是免疫的先天错误的基础

Najiba Alioua1, Nathalie Lambert1, Mathilde Puel1

  • 1Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France, EU.

Journal of human immunity
|December 15, 2025
PubMed
概括

内部变异,经常被忽视,可以导致免疫的先天性错误 (IEI). 这项研究使用先进的生物信息学和实验方法证实了特定内基变异的致病性,倡导将其纳入常规遗传查.

关键词:
免疫的天生的错误.分支点分支点分支点分支点遗传学 遗传学 遗传学 是一个内部变种 内部变种病原性 病原性 病原性

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