Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP986678.RA2htDSgFPXPLPHPXgJjfZPZwb9tU5J1Mjjz_Rp6C71I8#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000218 provenance.
- assertion wasDerivedFrom CTD_human provenance.
- assertion SIO_000772 25038750 provenance.
- assertion evidence source_evidence_curated provenance.
- assertion description "[We report a new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in five individuals with a spectrum of early-onset autoimmune disease, including type 1 diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.