Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1017845.RAq3mWQWSG34Xy36O6FXE2F1Jed18kMKEc6jHt8oi9KYs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1017845.RAq3mWQWSG34Xy36O6FXE2F1Jed18kMKEc6jHt8oi9KYs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1017845.RAq3mWQWSG34Xy36O6FXE2F1Jed18kMKEc6jHt8oi9KYs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1017845.RAq3mWQWSG34Xy36O6FXE2F1Jed18kMKEc6jHt8oi9KYs130_provenance.
- NP1017845.RAq3mWQWSG34Xy36O6FXE2F1Jed18kMKEc6jHt8oi9KYs130_assertion description "[Mutations in OFD1 also cause X-linked Joubert syndrome (JBTS10) and Simpson-Golabi-Behmel syndrome type 2 (SGBS2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1017845.RAq3mWQWSG34Xy36O6FXE2F1Jed18kMKEc6jHt8oi9KYs130_provenance.
- NP1017845.RAq3mWQWSG34Xy36O6FXE2F1Jed18kMKEc6jHt8oi9KYs130_assertion evidence source_evidence_literature NP1017845.RAq3mWQWSG34Xy36O6FXE2F1Jed18kMKEc6jHt8oi9KYs130_provenance.
- NP1017845.RAq3mWQWSG34Xy36O6FXE2F1Jed18kMKEc6jHt8oi9KYs130_assertion SIO_000772 23033313 NP1017845.RAq3mWQWSG34Xy36O6FXE2F1Jed18kMKEc6jHt8oi9KYs130_provenance.
- NP1017845.RAq3mWQWSG34Xy36O6FXE2F1Jed18kMKEc6jHt8oi9KYs130_assertion wasDerivedFrom befree-2016 NP1017845.RAq3mWQWSG34Xy36O6FXE2F1Jed18kMKEc6jHt8oi9KYs130_provenance.
- NP1017845.RAq3mWQWSG34Xy36O6FXE2F1Jed18kMKEc6jHt8oi9KYs130_assertion wasGeneratedBy ECO_0000203 NP1017845.RAq3mWQWSG34Xy36O6FXE2F1Jed18kMKEc6jHt8oi9KYs130_provenance.
- befree-2016 importedOn "2016-02-19" NP1017845.RAq3mWQWSG34Xy36O6FXE2F1Jed18kMKEc6jHt8oi9KYs130_provenance.