Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP8575.RAJO5LbRvyfEB_naKGIfyf6Yp4RYJZMx1jqlFSOmmETbk#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom GAD provenance.
- assertion SIO_000772 8102510 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.