Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP837157.RAvfmIF8Drb14jupxHm48clyk_f2IU2ux0fGJdizZZyRA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP837157.RAvfmIF8Drb14jupxHm48clyk_f2IU2ux0fGJdizZZyRA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP837157.RAvfmIF8Drb14jupxHm48clyk_f2IU2ux0fGJdizZZyRA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP837157.RAvfmIF8Drb14jupxHm48clyk_f2IU2ux0fGJdizZZyRA130_provenance.
- NP837157.RAvfmIF8Drb14jupxHm48clyk_f2IU2ux0fGJdizZZyRA130_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." NP837157.RAvfmIF8Drb14jupxHm48clyk_f2IU2ux0fGJdizZZyRA130_provenance.
- NP837157.RAvfmIF8Drb14jupxHm48clyk_f2IU2ux0fGJdizZZyRA130_assertion evidence source_evidence_literature NP837157.RAvfmIF8Drb14jupxHm48clyk_f2IU2ux0fGJdizZZyRA130_provenance.
- NP837157.RAvfmIF8Drb14jupxHm48clyk_f2IU2ux0fGJdizZZyRA130_assertion SIO_000772 23298686 NP837157.RAvfmIF8Drb14jupxHm48clyk_f2IU2ux0fGJdizZZyRA130_provenance.
- NP837157.RAvfmIF8Drb14jupxHm48clyk_f2IU2ux0fGJdizZZyRA130_assertion wasDerivedFrom befree-20140225 NP837157.RAvfmIF8Drb14jupxHm48clyk_f2IU2ux0fGJdizZZyRA130_provenance.
- NP837157.RAvfmIF8Drb14jupxHm48clyk_f2IU2ux0fGJdizZZyRA130_assertion wasGeneratedBy ECO_0000203 NP837157.RAvfmIF8Drb14jupxHm48clyk_f2IU2ux0fGJdizZZyRA130_provenance.
- befree-20140225 importedOn "2014-02-25" NP837157.RAvfmIF8Drb14jupxHm48clyk_f2IU2ux0fGJdizZZyRA130_provenance.