Type I interferon-mediated autoinflammation in two unrelated patients due to a proximal intronic splice site variant in DNASE2
两名互不相关的患者因DNASE2基因近端内含子剪接位点变异而发生I型干扰素介导的自身炎症
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doi:10.21203/rs.3.rs-7039031/v1
Schnappauf, Oskar; Wang, Hongying; Zhou, Qing; Burlakov, Vasily; Kozlova, Anna; Beck, David B; Moura, Natalia Sampaio; Deuitch, Natalie T; Tsai, Wanxia Li; Gadina, Massimo; Hoffmann, Patrycja; Ombrello, Amanda K; Zakharova, Victoria; Kieva, Amina; Raikina, Elena; Ricucci, Federica; Kastner, Daniel L; Shcherbina, Anna; Aksentijevich, Ivona