Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP218853.RAwekyqlf2LQZV5wNHzEsvK78zXdCVDOCn-t525ar3VYE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP218853.RAwekyqlf2LQZV5wNHzEsvK78zXdCVDOCn-t525ar3VYE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP218853.RAwekyqlf2LQZV5wNHzEsvK78zXdCVDOCn-t525ar3VYE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP218853.RAwekyqlf2LQZV5wNHzEsvK78zXdCVDOCn-t525ar3VYE130_provenance.
- NP218853.RAwekyqlf2LQZV5wNHzEsvK78zXdCVDOCn-t525ar3VYE130_assertion description "[Three patients had a Gly1961Glu missense mutation, the most common variant in Stargardt disease (STGD), with 2 of these subjects having a macular dystrophy (MD) phenotype and a second ABCA4 variant previously associated with STGD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP218853.RAwekyqlf2LQZV5wNHzEsvK78zXdCVDOCn-t525ar3VYE130_provenance.
- NP218853.RAwekyqlf2LQZV5wNHzEsvK78zXdCVDOCn-t525ar3VYE130_assertion evidence source_evidence_literature NP218853.RAwekyqlf2LQZV5wNHzEsvK78zXdCVDOCn-t525ar3VYE130_provenance.
- NP218853.RAwekyqlf2LQZV5wNHzEsvK78zXdCVDOCn-t525ar3VYE130_assertion SIO_000772 18024811 NP218853.RAwekyqlf2LQZV5wNHzEsvK78zXdCVDOCn-t525ar3VYE130_provenance.
- NP218853.RAwekyqlf2LQZV5wNHzEsvK78zXdCVDOCn-t525ar3VYE130_assertion wasDerivedFrom befree-20150227 NP218853.RAwekyqlf2LQZV5wNHzEsvK78zXdCVDOCn-t525ar3VYE130_provenance.
- NP218853.RAwekyqlf2LQZV5wNHzEsvK78zXdCVDOCn-t525ar3VYE130_assertion wasGeneratedBy ECO_0000203 NP218853.RAwekyqlf2LQZV5wNHzEsvK78zXdCVDOCn-t525ar3VYE130_provenance.
- befree-20150227 importedOn "2015-02-27" NP218853.RAwekyqlf2LQZV5wNHzEsvK78zXdCVDOCn-t525ar3VYE130_provenance.