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Updated: Sep 14, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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使用导航APDS遗传测试程序测试的个体的临床和遗传发现

Emily Campbell1, Jenny Garkaby2, Julia Upton3

  • 1Medical University of South Carolina,Division of Pediatric Pulmonology, Allergy and Immunology, Department of Pediatrics, Charleston, South Carolina.

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology
|July 24, 2025
PubMed
概括

广泛的基因测试有助于诊断免疫系统的先天性错误 (IEI),例如激活酸-3-激酶三角综合征 (APDS). 这种方法可以带来及时的管理变化和改善患者的治疗结果.

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