Matches in Nanopublications for { ?s ?p "[We have now characterized three disease-causing mutations (confirmed by lack of enzyme activity after expression in COS-7 cells) and a new susceptibility variant in the SCAD gene of two patients with SCAD deficiency, and investigated their frequency in patients with elevated EMA excretion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- assertion description "[We have now characterized three disease-causing mutations (confirmed by lack of enzyme activity after expression in COS-7 cells) and a new susceptibility variant in the SCAD gene of two patients with SCAD deficiency, and investigated their frequency in patients with elevated EMA excretion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP127.RAxwCd5eHuKo68gr0Gcu1WWXmHUPdrqgxZoNvFDEVKFsg130_assertion description "[We have now characterized three disease-causing mutations (confirmed by lack of enzyme activity after expression in COS-7 cells) and a new susceptibility variant in the SCAD gene of two patients with SCAD deficiency, and investigated their frequency in patients with elevated EMA excretion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127.RAxwCd5eHuKo68gr0Gcu1WWXmHUPdrqgxZoNvFDEVKFsg130_provenance.