Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP30238.RAfTwKMnFZ1uPePQi4eWucSOEu_SnYs6cn6LmCP2C9Ym8130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP30238.RAfTwKMnFZ1uPePQi4eWucSOEu_SnYs6cn6LmCP2C9Ym8130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP30238.RAfTwKMnFZ1uPePQi4eWucSOEu_SnYs6cn6LmCP2C9Ym8130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP30238.RAfTwKMnFZ1uPePQi4eWucSOEu_SnYs6cn6LmCP2C9Ym8130_provenance.
- NP30238.RAfTwKMnFZ1uPePQi4eWucSOEu_SnYs6cn6LmCP2C9Ym8130_assertion description "[Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP30238.RAfTwKMnFZ1uPePQi4eWucSOEu_SnYs6cn6LmCP2C9Ym8130_provenance.
- NP30238.RAfTwKMnFZ1uPePQi4eWucSOEu_SnYs6cn6LmCP2C9Ym8130_assertion evidence source_evidence_curated NP30238.RAfTwKMnFZ1uPePQi4eWucSOEu_SnYs6cn6LmCP2C9Ym8130_provenance.
- NP30238.RAfTwKMnFZ1uPePQi4eWucSOEu_SnYs6cn6LmCP2C9Ym8130_assertion SIO_000772 22426308 NP30238.RAfTwKMnFZ1uPePQi4eWucSOEu_SnYs6cn6LmCP2C9Ym8130_provenance.
- NP30238.RAfTwKMnFZ1uPePQi4eWucSOEu_SnYs6cn6LmCP2C9Ym8130_assertion wasDerivedFrom ctd_human-20130708 NP30238.RAfTwKMnFZ1uPePQi4eWucSOEu_SnYs6cn6LmCP2C9Ym8130_provenance.
- NP30238.RAfTwKMnFZ1uPePQi4eWucSOEu_SnYs6cn6LmCP2C9Ym8130_assertion wasGeneratedBy ECO_0000218 NP30238.RAfTwKMnFZ1uPePQi4eWucSOEu_SnYs6cn6LmCP2C9Ym8130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP30238.RAfTwKMnFZ1uPePQi4eWucSOEu_SnYs6cn6LmCP2C9Ym8130_provenance.