Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1238626.RAViV-BXishiW38QQHyPm2qf3FZ42alAu0uFiYRQ8XWJc130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1238626.RAViV-BXishiW38QQHyPm2qf3FZ42alAu0uFiYRQ8XWJc130_assertion type Assertion NP1238626.RAViV-BXishiW38QQHyPm2qf3FZ42alAu0uFiYRQ8XWJc130_head.
- 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.