Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP372786.RAvMrbtq7hx_RYHQDGvmrxYTKh1ysomNj0e1eR5eYg4GA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP372786.RAvMrbtq7hx_RYHQDGvmrxYTKh1ysomNj0e1eR5eYg4GA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP372786.RAvMrbtq7hx_RYHQDGvmrxYTKh1ysomNj0e1eR5eYg4GA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP372786.RAvMrbtq7hx_RYHQDGvmrxYTKh1ysomNj0e1eR5eYg4GA130_provenance.
- NP372786.RAvMrbtq7hx_RYHQDGvmrxYTKh1ysomNj0e1eR5eYg4GA130_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." NP372786.RAvMrbtq7hx_RYHQDGvmrxYTKh1ysomNj0e1eR5eYg4GA130_provenance.
- NP372786.RAvMrbtq7hx_RYHQDGvmrxYTKh1ysomNj0e1eR5eYg4GA130_assertion evidence source_evidence_literature NP372786.RAvMrbtq7hx_RYHQDGvmrxYTKh1ysomNj0e1eR5eYg4GA130_provenance.
- NP372786.RAvMrbtq7hx_RYHQDGvmrxYTKh1ysomNj0e1eR5eYg4GA130_assertion SIO_000772 23206890 NP372786.RAvMrbtq7hx_RYHQDGvmrxYTKh1ysomNj0e1eR5eYg4GA130_provenance.
- NP372786.RAvMrbtq7hx_RYHQDGvmrxYTKh1ysomNj0e1eR5eYg4GA130_assertion wasDerivedFrom befree-20150227 NP372786.RAvMrbtq7hx_RYHQDGvmrxYTKh1ysomNj0e1eR5eYg4GA130_provenance.
- NP372786.RAvMrbtq7hx_RYHQDGvmrxYTKh1ysomNj0e1eR5eYg4GA130_assertion wasGeneratedBy ECO_0000203 NP372786.RAvMrbtq7hx_RYHQDGvmrxYTKh1ysomNj0e1eR5eYg4GA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP372786.RAvMrbtq7hx_RYHQDGvmrxYTKh1ysomNj0e1eR5eYg4GA130_provenance.