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Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review

Background: Germline mutations in signal transducer and activator of transcription 1 (STAT1), which lead to primary immunodeficiency, are classified as defects in intrinsic and innate immunity. To date, no comprehensive overview comparing GOF with LOF in early-onset immunodeficiency has been compile...

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Detalles Bibliográficos
Autores principales: Zhang, Wenjing, Chen, Xuemei, Gao, Guodong, Xing, Shubin, Zhou, Lina, Tang, Xuemei, Zhao, Xiaodong, An, Yunfei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7991083/
https://www.ncbi.nlm.nih.gov/pubmed/33777053
http://dx.doi.org/10.3389/fimmu.2021.654406