Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP890542.RAizAcxMg3Iv-frD8Cz3HqHV-9BgqKRtcuP16zLqK0xJk#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 11092761 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[This is the first documented report of an inborn error of P5CS and suggests that this disorder should be considered in the differential diagnosis in patients with neurodegeneration and/or cataracts and connective tissue disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.