Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP6734.RAqVVBtk5IIcImA24MEbUStbP12T6Av0TpzrOP3jccFOA130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6734.RAqVVBtk5IIcImA24MEbUStbP12T6Av0TpzrOP3jccFOA130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6734.RAqVVBtk5IIcImA24MEbUStbP12T6Av0TpzrOP3jccFOA130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6734.RAqVVBtk5IIcImA24MEbUStbP12T6Av0TpzrOP3jccFOA130_provenance.
- NP6734.RAqVVBtk5IIcImA24MEbUStbP12T6Av0TpzrOP3jccFOA130_assertion wasGeneratedBy ECO_0000218 NP6734.RAqVVBtk5IIcImA24MEbUStbP12T6Av0TpzrOP3jccFOA130_provenance.
- NP6734.RAqVVBtk5IIcImA24MEbUStbP12T6Av0TpzrOP3jccFOA130_assertion wasDerivedFrom uniprot-20130724 NP6734.RAqVVBtk5IIcImA24MEbUStbP12T6Av0TpzrOP3jccFOA130_provenance.
- NP6734.RAqVVBtk5IIcImA24MEbUStbP12T6Av0TpzrOP3jccFOA130_assertion SIO_000772 16845398 NP6734.RAqVVBtk5IIcImA24MEbUStbP12T6Av0TpzrOP3jccFOA130_provenance.
- NP6734.RAqVVBtk5IIcImA24MEbUStbP12T6Av0TpzrOP3jccFOA130_assertion evidence source_evidence_curated NP6734.RAqVVBtk5IIcImA24MEbUStbP12T6Av0TpzrOP3jccFOA130_provenance.
- NP6734.RAqVVBtk5IIcImA24MEbUStbP12T6Av0TpzrOP3jccFOA130_assertion description "[Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutires syndrome at the AGS1 locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6734.RAqVVBtk5IIcImA24MEbUStbP12T6Av0TpzrOP3jccFOA130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP6734.RAqVVBtk5IIcImA24MEbUStbP12T6Av0TpzrOP3jccFOA130_provenance.