Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP237474.RA2U-bZBj2PVz5UJHt7WdtxjnsDXogXzCm0DSTjh09U8c#assertion> ?p ?o ?g. }
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- 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." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 25410056 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.