Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP586.RAKRJXjFlJ8WuTNWeR_3FsFy9MpDT783LaoegSAW4FA1A130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP586.RAKRJXjFlJ8WuTNWeR_3FsFy9MpDT783LaoegSAW4FA1A130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP586.RAKRJXjFlJ8WuTNWeR_3FsFy9MpDT783LaoegSAW4FA1A130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP586.RAKRJXjFlJ8WuTNWeR_3FsFy9MpDT783LaoegSAW4FA1A130_provenance.
- NP586.RAKRJXjFlJ8WuTNWeR_3FsFy9MpDT783LaoegSAW4FA1A130_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." NP586.RAKRJXjFlJ8WuTNWeR_3FsFy9MpDT783LaoegSAW4FA1A130_provenance.
- NP586.RAKRJXjFlJ8WuTNWeR_3FsFy9MpDT783LaoegSAW4FA1A130_assertion evidence source_evidence_curated NP586.RAKRJXjFlJ8WuTNWeR_3FsFy9MpDT783LaoegSAW4FA1A130_provenance.
- NP586.RAKRJXjFlJ8WuTNWeR_3FsFy9MpDT783LaoegSAW4FA1A130_assertion SIO_000772 23542699 NP586.RAKRJXjFlJ8WuTNWeR_3FsFy9MpDT783LaoegSAW4FA1A130_provenance.
- NP586.RAKRJXjFlJ8WuTNWeR_3FsFy9MpDT783LaoegSAW4FA1A130_assertion wasDerivedFrom uniprot-20150221 NP586.RAKRJXjFlJ8WuTNWeR_3FsFy9MpDT783LaoegSAW4FA1A130_provenance.
- NP586.RAKRJXjFlJ8WuTNWeR_3FsFy9MpDT783LaoegSAW4FA1A130_assertion wasGeneratedBy ECO_0000218 NP586.RAKRJXjFlJ8WuTNWeR_3FsFy9MpDT783LaoegSAW4FA1A130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP586.RAKRJXjFlJ8WuTNWeR_3FsFy9MpDT783LaoegSAW4FA1A130_provenance.