Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP255510.RAVDvy3ReKeWZ0ffASApKm-Xc5qBHRtmednUOpP1gBLXU130_assertion> ?p ?o ?g. }
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- NP255510.RAVDvy3ReKeWZ0ffASApKm-Xc5qBHRtmednUOpP1gBLXU130_assertion type Assertion NP255510.RAVDvy3ReKeWZ0ffASApKm-Xc5qBHRtmednUOpP1gBLXU130_head.
- NP255510.RAVDvy3ReKeWZ0ffASApKm-Xc5qBHRtmednUOpP1gBLXU130_assertion description "[Isolated long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency resulting from the common Glu510Gln mutation usually gives rise to a moderately severe phenotype with multiorgan involvement with high morbidity and mortality.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP255510.RAVDvy3ReKeWZ0ffASApKm-Xc5qBHRtmednUOpP1gBLXU130_provenance.
- NP255510.RAVDvy3ReKeWZ0ffASApKm-Xc5qBHRtmednUOpP1gBLXU130_assertion evidence source_evidence_literature NP255510.RAVDvy3ReKeWZ0ffASApKm-Xc5qBHRtmednUOpP1gBLXU130_provenance.
- NP255510.RAVDvy3ReKeWZ0ffASApKm-Xc5qBHRtmednUOpP1gBLXU130_assertion SIO_000772 15902556 NP255510.RAVDvy3ReKeWZ0ffASApKm-Xc5qBHRtmednUOpP1gBLXU130_provenance.
- NP255510.RAVDvy3ReKeWZ0ffASApKm-Xc5qBHRtmednUOpP1gBLXU130_assertion wasDerivedFrom befree-20140225 NP255510.RAVDvy3ReKeWZ0ffASApKm-Xc5qBHRtmednUOpP1gBLXU130_provenance.
- NP255510.RAVDvy3ReKeWZ0ffASApKm-Xc5qBHRtmednUOpP1gBLXU130_assertion wasGeneratedBy ECO_0000203 NP255510.RAVDvy3ReKeWZ0ffASApKm-Xc5qBHRtmednUOpP1gBLXU130_provenance.