Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP659181.RAqIOFcJsi-n2uFBvtTxUU9tsYSFmlcu2JdRIU8EdLSLY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP659181.RAqIOFcJsi-n2uFBvtTxUU9tsYSFmlcu2JdRIU8EdLSLY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP659181.RAqIOFcJsi-n2uFBvtTxUU9tsYSFmlcu2JdRIU8EdLSLY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP659181.RAqIOFcJsi-n2uFBvtTxUU9tsYSFmlcu2JdRIU8EdLSLY130_provenance.
- NP659181.RAqIOFcJsi-n2uFBvtTxUU9tsYSFmlcu2JdRIU8EdLSLY130_assertion description "[The deficiency of ubiquitously expressed glucose-6-phosphatase (G6PC3) enzyme is known to result in a syndrome characterized by severe congenital neutropenia, prominent superficial venous pattern, congenital heart defects and genito-urinary malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP659181.RAqIOFcJsi-n2uFBvtTxUU9tsYSFmlcu2JdRIU8EdLSLY130_provenance.
- NP659181.RAqIOFcJsi-n2uFBvtTxUU9tsYSFmlcu2JdRIU8EdLSLY130_assertion evidence source_evidence_literature NP659181.RAqIOFcJsi-n2uFBvtTxUU9tsYSFmlcu2JdRIU8EdLSLY130_provenance.
- NP659181.RAqIOFcJsi-n2uFBvtTxUU9tsYSFmlcu2JdRIU8EdLSLY130_assertion SIO_000772 23298686 NP659181.RAqIOFcJsi-n2uFBvtTxUU9tsYSFmlcu2JdRIU8EdLSLY130_provenance.
- NP659181.RAqIOFcJsi-n2uFBvtTxUU9tsYSFmlcu2JdRIU8EdLSLY130_assertion wasDerivedFrom befree-20140225 NP659181.RAqIOFcJsi-n2uFBvtTxUU9tsYSFmlcu2JdRIU8EdLSLY130_provenance.
- NP659181.RAqIOFcJsi-n2uFBvtTxUU9tsYSFmlcu2JdRIU8EdLSLY130_assertion wasGeneratedBy ECO_0000203 NP659181.RAqIOFcJsi-n2uFBvtTxUU9tsYSFmlcu2JdRIU8EdLSLY130_provenance.
- befree-20140225 importedOn "2014-02-25" NP659181.RAqIOFcJsi-n2uFBvtTxUU9tsYSFmlcu2JdRIU8EdLSLY130_provenance.