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Updated: Jul 16, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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一种生物信息学方法来识别史蒂文斯-约翰逊综合征的致病变体

Muhammad Ma'ruf1, Justitia Cahyani Fadli1, Muhammad Reza Mahendra1

  • 1Faculty of Pharmacy, Universitas Ahmad Dahlan, Yogyakarta 55164, Indonesia.

Genomics & informatics
|September 13, 2023
PubMed
概括

这项研究确定了与史蒂文斯-约翰逊综合征 (SJS) 相关的HLA-C基因中的特定遗传变异. 这些特定于人群的变异可能会改善SJS的预后和治疗.

关键词:
史蒂文斯 - 约翰逊综合征生物信息学是一种生物信息学.遗传变异是一种遗传变异.基因组基因组学病原性变体的病原性变体

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