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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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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 |