Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP31000.RAz2p3TPy0upiCEtLu42XrKrEwlWRMeWWxR-D0YrV4gIY130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP31000.RAz2p3TPy0upiCEtLu42XrKrEwlWRMeWWxR-D0YrV4gIY130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP31000.RAz2p3TPy0upiCEtLu42XrKrEwlWRMeWWxR-D0YrV4gIY130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP31000.RAz2p3TPy0upiCEtLu42XrKrEwlWRMeWWxR-D0YrV4gIY130_provenance.
- NP31000.RAz2p3TPy0upiCEtLu42XrKrEwlWRMeWWxR-D0YrV4gIY130_assertion description "[Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP31000.RAz2p3TPy0upiCEtLu42XrKrEwlWRMeWWxR-D0YrV4gIY130_provenance.
- NP31000.RAz2p3TPy0upiCEtLu42XrKrEwlWRMeWWxR-D0YrV4gIY130_assertion evidence source_evidence_curated NP31000.RAz2p3TPy0upiCEtLu42XrKrEwlWRMeWWxR-D0YrV4gIY130_provenance.
- NP31000.RAz2p3TPy0upiCEtLu42XrKrEwlWRMeWWxR-D0YrV4gIY130_assertion SIO_000772 23542699 NP31000.RAz2p3TPy0upiCEtLu42XrKrEwlWRMeWWxR-D0YrV4gIY130_provenance.
- NP31000.RAz2p3TPy0upiCEtLu42XrKrEwlWRMeWWxR-D0YrV4gIY130_assertion wasDerivedFrom ctd_human-20130708 NP31000.RAz2p3TPy0upiCEtLu42XrKrEwlWRMeWWxR-D0YrV4gIY130_provenance.
- NP31000.RAz2p3TPy0upiCEtLu42XrKrEwlWRMeWWxR-D0YrV4gIY130_assertion wasGeneratedBy ECO_0000218 NP31000.RAz2p3TPy0upiCEtLu42XrKrEwlWRMeWWxR-D0YrV4gIY130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP31000.RAz2p3TPy0upiCEtLu42XrKrEwlWRMeWWxR-D0YrV4gIY130_provenance.