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pro vyhledávání: '"Ia Zakaraia"'
Autor:
Rensheng Wan, Johannes Fänder, Ia Zakaraia, Min Ae Lee-Kirsch, Christine Wolf, Nadja Lucas, Lisa Isabel Olfe, Corinna Hendrich, Danny Jonigk, Dirk Holzinger, Mathis Steindor, Gunnar Schmidt, Claudia Davenport, Christian Klemann, Nicolaus Schwerk, Matthias Griese, Brigitte Schlegelberger, Florian Stehling, Christine Happle, Bernd Auber, Doris Steinemann, Martin Wetzke, Sandra von Hardenberg
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Gain-of-function variants in the stimulator of interferon response cGAMP interactor 1 (STING1) gene cause STING-Associated Vasculopathy with onset in Infancy (SAVI). Previously, only heterozygous and mostly de novo STING1 variants have been reported
Externí odkaz:
https://doaj.org/article/25fe0ff95b034185a86e473bcbc015c8
