Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP661573.RAHQNKW-IKPl14d--EIYm9wWXC8ygc7BPLFcnmhyGZcIA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP661573.RAHQNKW-IKPl14d--EIYm9wWXC8ygc7BPLFcnmhyGZcIA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP661573.RAHQNKW-IKPl14d--EIYm9wWXC8ygc7BPLFcnmhyGZcIA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP661573.RAHQNKW-IKPl14d--EIYm9wWXC8ygc7BPLFcnmhyGZcIA130_provenance.
- NP661573.RAHQNKW-IKPl14d--EIYm9wWXC8ygc7BPLFcnmhyGZcIA130_assertion description "[Of the 175 Taiwanese PIDD patients during a 28-year period, three patients from two unrelated families were identified with the hotspot INFRG1 deletion mutation (818del4) and had CGD features, presenting as cutaneous granuloma, and multiple osteomyelitis infected by non-tuberculosis mycobacteria, Mycobacteria avium complex and Mycobacterium scrofulaceum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP661573.RAHQNKW-IKPl14d--EIYm9wWXC8ygc7BPLFcnmhyGZcIA130_provenance.
- NP661573.RAHQNKW-IKPl14d--EIYm9wWXC8ygc7BPLFcnmhyGZcIA130_assertion evidence source_evidence_literature NP661573.RAHQNKW-IKPl14d--EIYm9wWXC8ygc7BPLFcnmhyGZcIA130_provenance.
- NP661573.RAHQNKW-IKPl14d--EIYm9wWXC8ygc7BPLFcnmhyGZcIA130_assertion SIO_000772 18972195 NP661573.RAHQNKW-IKPl14d--EIYm9wWXC8ygc7BPLFcnmhyGZcIA130_provenance.
- NP661573.RAHQNKW-IKPl14d--EIYm9wWXC8ygc7BPLFcnmhyGZcIA130_assertion wasDerivedFrom befree-20140225 NP661573.RAHQNKW-IKPl14d--EIYm9wWXC8ygc7BPLFcnmhyGZcIA130_provenance.
- NP661573.RAHQNKW-IKPl14d--EIYm9wWXC8ygc7BPLFcnmhyGZcIA130_assertion wasGeneratedBy ECO_0000203 NP661573.RAHQNKW-IKPl14d--EIYm9wWXC8ygc7BPLFcnmhyGZcIA130_provenance.
- befree-20140225 importedOn "2014-02-25" NP661573.RAHQNKW-IKPl14d--EIYm9wWXC8ygc7BPLFcnmhyGZcIA130_provenance.