Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP344201.RA7plAqx4Eq8s0XpvE794zqeD7ynvd3uQ9A2Pz04O7-hg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP344201.RA7plAqx4Eq8s0XpvE794zqeD7ynvd3uQ9A2Pz04O7-hg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP344201.RA7plAqx4Eq8s0XpvE794zqeD7ynvd3uQ9A2Pz04O7-hg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP344201.RA7plAqx4Eq8s0XpvE794zqeD7ynvd3uQ9A2Pz04O7-hg130_provenance.
- NP344201.RA7plAqx4Eq8s0XpvE794zqeD7ynvd3uQ9A2Pz04O7-hg130_assertion wasGeneratedBy ECO_0000203 NP344201.RA7plAqx4Eq8s0XpvE794zqeD7ynvd3uQ9A2Pz04O7-hg130_provenance.
- NP344201.RA7plAqx4Eq8s0XpvE794zqeD7ynvd3uQ9A2Pz04O7-hg130_assertion wasDerivedFrom befree-20140225 NP344201.RA7plAqx4Eq8s0XpvE794zqeD7ynvd3uQ9A2Pz04O7-hg130_provenance.
- NP344201.RA7plAqx4Eq8s0XpvE794zqeD7ynvd3uQ9A2Pz04O7-hg130_assertion SIO_000772 22344793 NP344201.RA7plAqx4Eq8s0XpvE794zqeD7ynvd3uQ9A2Pz04O7-hg130_provenance.
- NP344201.RA7plAqx4Eq8s0XpvE794zqeD7ynvd3uQ9A2Pz04O7-hg130_assertion evidence source_evidence_literature NP344201.RA7plAqx4Eq8s0XpvE794zqeD7ynvd3uQ9A2Pz04O7-hg130_provenance.
- NP344201.RA7plAqx4Eq8s0XpvE794zqeD7ynvd3uQ9A2Pz04O7-hg130_assertion description "[While it is obvious that additional studies are necessary to further delineate the association between XLH and HSCR in the presence of L1CAM mutations, the documentation of this new patient reinforces the role of this gene acting either in a direct or indirect way in the pathogenesis of Hirschsprung disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP344201.RA7plAqx4Eq8s0XpvE794zqeD7ynvd3uQ9A2Pz04O7-hg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP344201.RA7plAqx4Eq8s0XpvE794zqeD7ynvd3uQ9A2Pz04O7-hg130_provenance.