Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP330606.RAwGBBseNz5KSsec00vhwgRTjYZRnWcZ0a3Hq8I5MgDeI#assertion> ?p ?o ?g. }
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- assertion description "[Of eight patients without detectable auto-antibodies, three had ELANE mutations [Ser126Pro, Arg170Phe and Cys223stop] and recurrent muco-cutaneous infections and sepsis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 23206890 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.