Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
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Rice GI, et al. Among authors: ariaudo g.
Nat Genet. 2014 May;46(5):503-509. doi: 10.1038/ng.2933. Epub 2014 Mar 30.
Nat Genet. 2014.
PMID: 24686847
Free PMC article.