Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP458988.RA0M5Imp8BSDGNQnnFjfBHrTOXgLophtCvJI0prWl3Lvc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP458988.RA0M5Imp8BSDGNQnnFjfBHrTOXgLophtCvJI0prWl3Lvc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP458988.RA0M5Imp8BSDGNQnnFjfBHrTOXgLophtCvJI0prWl3Lvc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP458988.RA0M5Imp8BSDGNQnnFjfBHrTOXgLophtCvJI0prWl3Lvc130_provenance.
- NP458988.RA0M5Imp8BSDGNQnnFjfBHrTOXgLophtCvJI0prWl3Lvc130_assertion description "[Infrequently, FBN1 mutations cause dominantly inherited Weill-Marchesani syndrome (WMS), isolated ectopia lentis (IEL), or the fibrotic condition, geleophysic dysplasia (GD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP458988.RA0M5Imp8BSDGNQnnFjfBHrTOXgLophtCvJI0prWl3Lvc130_provenance.
- NP458988.RA0M5Imp8BSDGNQnnFjfBHrTOXgLophtCvJI0prWl3Lvc130_assertion evidence source_evidence_literature NP458988.RA0M5Imp8BSDGNQnnFjfBHrTOXgLophtCvJI0prWl3Lvc130_provenance.
- NP458988.RA0M5Imp8BSDGNQnnFjfBHrTOXgLophtCvJI0prWl3Lvc130_assertion SIO_000772 21858451 NP458988.RA0M5Imp8BSDGNQnnFjfBHrTOXgLophtCvJI0prWl3Lvc130_provenance.
- NP458988.RA0M5Imp8BSDGNQnnFjfBHrTOXgLophtCvJI0prWl3Lvc130_assertion wasDerivedFrom befree-20140225 NP458988.RA0M5Imp8BSDGNQnnFjfBHrTOXgLophtCvJI0prWl3Lvc130_provenance.
- NP458988.RA0M5Imp8BSDGNQnnFjfBHrTOXgLophtCvJI0prWl3Lvc130_assertion wasGeneratedBy ECO_0000203 NP458988.RA0M5Imp8BSDGNQnnFjfBHrTOXgLophtCvJI0prWl3Lvc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP458988.RA0M5Imp8BSDGNQnnFjfBHrTOXgLophtCvJI0prWl3Lvc130_provenance.