Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP693015.RAkGmwp5FiHYWoqN5lBryOdB_VwsjSpAHdIYfIvUIrdp4130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP693015.RAkGmwp5FiHYWoqN5lBryOdB_VwsjSpAHdIYfIvUIrdp4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP693015.RAkGmwp5FiHYWoqN5lBryOdB_VwsjSpAHdIYfIvUIrdp4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP693015.RAkGmwp5FiHYWoqN5lBryOdB_VwsjSpAHdIYfIvUIrdp4130_provenance.
- NP693015.RAkGmwp5FiHYWoqN5lBryOdB_VwsjSpAHdIYfIvUIrdp4130_assertion description "[These data indicate that mutations in SCO2 cause a fatal infantile mitochondrial disorder characterized by hypertrophic cardiomyopathy and encephalopathy, and point to the presence of one or more other genes, perhaps in the copper delivery pathway, in this clinical phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP693015.RAkGmwp5FiHYWoqN5lBryOdB_VwsjSpAHdIYfIvUIrdp4130_provenance.
- NP693015.RAkGmwp5FiHYWoqN5lBryOdB_VwsjSpAHdIYfIvUIrdp4130_assertion evidence source_evidence_literature NP693015.RAkGmwp5FiHYWoqN5lBryOdB_VwsjSpAHdIYfIvUIrdp4130_provenance.
- NP693015.RAkGmwp5FiHYWoqN5lBryOdB_VwsjSpAHdIYfIvUIrdp4130_assertion SIO_000772 10749987 NP693015.RAkGmwp5FiHYWoqN5lBryOdB_VwsjSpAHdIYfIvUIrdp4130_provenance.
- NP693015.RAkGmwp5FiHYWoqN5lBryOdB_VwsjSpAHdIYfIvUIrdp4130_assertion wasDerivedFrom befree-20140225 NP693015.RAkGmwp5FiHYWoqN5lBryOdB_VwsjSpAHdIYfIvUIrdp4130_provenance.
- NP693015.RAkGmwp5FiHYWoqN5lBryOdB_VwsjSpAHdIYfIvUIrdp4130_assertion wasGeneratedBy ECO_0000203 NP693015.RAkGmwp5FiHYWoqN5lBryOdB_VwsjSpAHdIYfIvUIrdp4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP693015.RAkGmwp5FiHYWoqN5lBryOdB_VwsjSpAHdIYfIvUIrdp4130_provenance.