Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP832742.RAftHbHJqi6JSVQHS8piuyaAasfQ_5AqSds1eCTNTDZsQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP832742.RAftHbHJqi6JSVQHS8piuyaAasfQ_5AqSds1eCTNTDZsQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP832742.RAftHbHJqi6JSVQHS8piuyaAasfQ_5AqSds1eCTNTDZsQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP832742.RAftHbHJqi6JSVQHS8piuyaAasfQ_5AqSds1eCTNTDZsQ130_provenance.
- NP832742.RAftHbHJqi6JSVQHS8piuyaAasfQ_5AqSds1eCTNTDZsQ130_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." NP832742.RAftHbHJqi6JSVQHS8piuyaAasfQ_5AqSds1eCTNTDZsQ130_provenance.
- NP832742.RAftHbHJqi6JSVQHS8piuyaAasfQ_5AqSds1eCTNTDZsQ130_assertion evidence source_evidence_literature NP832742.RAftHbHJqi6JSVQHS8piuyaAasfQ_5AqSds1eCTNTDZsQ130_provenance.
- NP832742.RAftHbHJqi6JSVQHS8piuyaAasfQ_5AqSds1eCTNTDZsQ130_assertion SIO_000772 18972195 NP832742.RAftHbHJqi6JSVQHS8piuyaAasfQ_5AqSds1eCTNTDZsQ130_provenance.
- NP832742.RAftHbHJqi6JSVQHS8piuyaAasfQ_5AqSds1eCTNTDZsQ130_assertion wasDerivedFrom befree-20140225 NP832742.RAftHbHJqi6JSVQHS8piuyaAasfQ_5AqSds1eCTNTDZsQ130_provenance.
- NP832742.RAftHbHJqi6JSVQHS8piuyaAasfQ_5AqSds1eCTNTDZsQ130_assertion wasGeneratedBy ECO_0000203 NP832742.RAftHbHJqi6JSVQHS8piuyaAasfQ_5AqSds1eCTNTDZsQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP832742.RAftHbHJqi6JSVQHS8piuyaAasfQ_5AqSds1eCTNTDZsQ130_provenance.