Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1238626.RAViV-BXishiW38QQHyPm2qf3FZ42alAu0uFiYRQ8XWJc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1238626.RAViV-BXishiW38QQHyPm2qf3FZ42alAu0uFiYRQ8XWJc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1238626.RAViV-BXishiW38QQHyPm2qf3FZ42alAu0uFiYRQ8XWJc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1238626.RAViV-BXishiW38QQHyPm2qf3FZ42alAu0uFiYRQ8XWJc130_provenance.
- NP1238626.RAViV-BXishiW38QQHyPm2qf3FZ42alAu0uFiYRQ8XWJc130_assertion description "[Carbamoyl phosphate synthetase 1 (CPS1) deficiency due to CPS1 mutations is a rare autosomal-recessive urea cycle disorder causing hyperammonemia that can lead to death or severe neurological impairment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1238626.RAViV-BXishiW38QQHyPm2qf3FZ42alAu0uFiYRQ8XWJc130_provenance.
- NP1238626.RAViV-BXishiW38QQHyPm2qf3FZ42alAu0uFiYRQ8XWJc130_assertion evidence source_evidence_literature NP1238626.RAViV-BXishiW38QQHyPm2qf3FZ42alAu0uFiYRQ8XWJc130_provenance.
- NP1238626.RAViV-BXishiW38QQHyPm2qf3FZ42alAu0uFiYRQ8XWJc130_assertion SIO_000772 25410056 NP1238626.RAViV-BXishiW38QQHyPm2qf3FZ42alAu0uFiYRQ8XWJc130_provenance.
- NP1238626.RAViV-BXishiW38QQHyPm2qf3FZ42alAu0uFiYRQ8XWJc130_assertion wasDerivedFrom befree-2016 NP1238626.RAViV-BXishiW38QQHyPm2qf3FZ42alAu0uFiYRQ8XWJc130_provenance.
- NP1238626.RAViV-BXishiW38QQHyPm2qf3FZ42alAu0uFiYRQ8XWJc130_assertion wasGeneratedBy ECO_0000203 NP1238626.RAViV-BXishiW38QQHyPm2qf3FZ42alAu0uFiYRQ8XWJc130_provenance.
- befree-2016 importedOn "2016-02-19" NP1238626.RAViV-BXishiW38QQHyPm2qf3FZ42alAu0uFiYRQ8XWJc130_provenance.