Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP230080.RAbkbpHXxpB5Uotwh4jaytkNHjTns0M4iig5VNbTRoMWA130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP230080.RAbkbpHXxpB5Uotwh4jaytkNHjTns0M4iig5VNbTRoMWA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP230080.RAbkbpHXxpB5Uotwh4jaytkNHjTns0M4iig5VNbTRoMWA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP230080.RAbkbpHXxpB5Uotwh4jaytkNHjTns0M4iig5VNbTRoMWA130_provenance.
- NP230080.RAbkbpHXxpB5Uotwh4jaytkNHjTns0M4iig5VNbTRoMWA130_assertion description "[missense variants, c.248T > C (p.L83P), c.2662G > A (p.G888S) in POLG1 were detected in a 10-year-old Chinese girl with refractory seizures, acute liver failure after exposure to valproic acid, cortical blindness, and psychomotor regression ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP230080.RAbkbpHXxpB5Uotwh4jaytkNHjTns0M4iig5VNbTRoMWA130_provenance.
- NP230080.RAbkbpHXxpB5Uotwh4jaytkNHjTns0M4iig5VNbTRoMWA130_assertion evidence source_evidence_literature NP230080.RAbkbpHXxpB5Uotwh4jaytkNHjTns0M4iig5VNbTRoMWA130_provenance.
- NP230080.RAbkbpHXxpB5Uotwh4jaytkNHjTns0M4iig5VNbTRoMWA130_assertion SIO_000772 17923349 NP230080.RAbkbpHXxpB5Uotwh4jaytkNHjTns0M4iig5VNbTRoMWA130_provenance.
- NP230080.RAbkbpHXxpB5Uotwh4jaytkNHjTns0M4iig5VNbTRoMWA130_assertion wasDerivedFrom lhgdn-20090331 NP230080.RAbkbpHXxpB5Uotwh4jaytkNHjTns0M4iig5VNbTRoMWA130_provenance.
- NP230080.RAbkbpHXxpB5Uotwh4jaytkNHjTns0M4iig5VNbTRoMWA130_assertion wasGeneratedBy ECO_0000203 NP230080.RAbkbpHXxpB5Uotwh4jaytkNHjTns0M4iig5VNbTRoMWA130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP230080.RAbkbpHXxpB5Uotwh4jaytkNHjTns0M4iig5VNbTRoMWA130_provenance.