Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP918455.RAtO5wWIhov9SjC9nPvZliX9oSEPrv8vK064a_F-EFrbs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP918455.RAtO5wWIhov9SjC9nPvZliX9oSEPrv8vK064a_F-EFrbs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP918455.RAtO5wWIhov9SjC9nPvZliX9oSEPrv8vK064a_F-EFrbs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP918455.RAtO5wWIhov9SjC9nPvZliX9oSEPrv8vK064a_F-EFrbs130_provenance.
- NP918455.RAtO5wWIhov9SjC9nPvZliX9oSEPrv8vK064a_F-EFrbs130_assertion description "[Intriguingly, mutations in ADAMTS [a disintegrin-like and metalloprotease (reprolysin-type) with thrombospondin type 1 motif] family members phenocopy these disorders, leading to recessive WMS (ADAMTS10), WMS-like syndrome (ADAMTS17), IEL (ADAMTSL4 and ADAMTS17) and GD (ADAMTSL2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP918455.RAtO5wWIhov9SjC9nPvZliX9oSEPrv8vK064a_F-EFrbs130_provenance.
- NP918455.RAtO5wWIhov9SjC9nPvZliX9oSEPrv8vK064a_F-EFrbs130_assertion evidence source_evidence_literature NP918455.RAtO5wWIhov9SjC9nPvZliX9oSEPrv8vK064a_F-EFrbs130_provenance.
- NP918455.RAtO5wWIhov9SjC9nPvZliX9oSEPrv8vK064a_F-EFrbs130_assertion SIO_000772 21858451 NP918455.RAtO5wWIhov9SjC9nPvZliX9oSEPrv8vK064a_F-EFrbs130_provenance.
- NP918455.RAtO5wWIhov9SjC9nPvZliX9oSEPrv8vK064a_F-EFrbs130_assertion wasDerivedFrom befree-2016 NP918455.RAtO5wWIhov9SjC9nPvZliX9oSEPrv8vK064a_F-EFrbs130_provenance.
- NP918455.RAtO5wWIhov9SjC9nPvZliX9oSEPrv8vK064a_F-EFrbs130_assertion wasGeneratedBy ECO_0000203 NP918455.RAtO5wWIhov9SjC9nPvZliX9oSEPrv8vK064a_F-EFrbs130_provenance.
- befree-2016 importedOn "2016-02-19" NP918455.RAtO5wWIhov9SjC9nPvZliX9oSEPrv8vK064a_F-EFrbs130_provenance.