Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP280133.RAxaPX2dtclkeRyj-lBG-b2_0oF_MPaZiTWeJjFFupmOk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP280133.RAxaPX2dtclkeRyj-lBG-b2_0oF_MPaZiTWeJjFFupmOk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP280133.RAxaPX2dtclkeRyj-lBG-b2_0oF_MPaZiTWeJjFFupmOk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP280133.RAxaPX2dtclkeRyj-lBG-b2_0oF_MPaZiTWeJjFFupmOk130_provenance.
- NP280133.RAxaPX2dtclkeRyj-lBG-b2_0oF_MPaZiTWeJjFFupmOk130_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." NP280133.RAxaPX2dtclkeRyj-lBG-b2_0oF_MPaZiTWeJjFFupmOk130_provenance.
- NP280133.RAxaPX2dtclkeRyj-lBG-b2_0oF_MPaZiTWeJjFFupmOk130_assertion evidence source_evidence_literature NP280133.RAxaPX2dtclkeRyj-lBG-b2_0oF_MPaZiTWeJjFFupmOk130_provenance.
- NP280133.RAxaPX2dtclkeRyj-lBG-b2_0oF_MPaZiTWeJjFFupmOk130_assertion SIO_000772 10749987 NP280133.RAxaPX2dtclkeRyj-lBG-b2_0oF_MPaZiTWeJjFFupmOk130_provenance.
- NP280133.RAxaPX2dtclkeRyj-lBG-b2_0oF_MPaZiTWeJjFFupmOk130_assertion wasDerivedFrom befree-2016 NP280133.RAxaPX2dtclkeRyj-lBG-b2_0oF_MPaZiTWeJjFFupmOk130_provenance.
- NP280133.RAxaPX2dtclkeRyj-lBG-b2_0oF_MPaZiTWeJjFFupmOk130_assertion wasGeneratedBy ECO_0000203 NP280133.RAxaPX2dtclkeRyj-lBG-b2_0oF_MPaZiTWeJjFFupmOk130_provenance.
- befree-2016 importedOn "2016-02-19" NP280133.RAxaPX2dtclkeRyj-lBG-b2_0oF_MPaZiTWeJjFFupmOk130_provenance.