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Updated: Jul 19, 2025

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在一个巴西队列中进行基因查,该队列具有免疫系统的先天性错误

Cristina Santos Ferreira1, Ronaldo da Silva Francisco Junior1, Alexandra Lehmkuhl Gerber1

  • 1Bioinformatics Laboratory-LABINFO, National Laboratory of Scientific Computation LNCC/MCTIC, Av. Getúlio Vargas, 333, Quitandinha CEP: 25651-075, Petrópolis, Rio de Janeiro, Brazil.

BMC genomic data
|August 17, 2023
PubMed
概括

基因查在巴西患者的9个基因中发现了16种导致疾病的变异,这些基因是天生的免疫错误 (IEI) 的. 这项研究促进了对IEI遗传基础的理解,并在资源有限的环境中帮助诊断艾滋病.

关键词:
基因查是一种基因查.免疫的天生的错误 免疫的天生的错误单个核酸变体的变体整个外基因组的测序.

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