Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1047799.RAezdIPeGNPpyZXlvp2afS394fhwp0uYwSuY9hpsNqYe8130_assertion> ?p ?o ?g. }
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- NP1047799.RAezdIPeGNPpyZXlvp2afS394fhwp0uYwSuY9hpsNqYe8130_assertion type Assertion NP1047799.RAezdIPeGNPpyZXlvp2afS394fhwp0uYwSuY9hpsNqYe8130_head.
- NP1047799.RAezdIPeGNPpyZXlvp2afS394fhwp0uYwSuY9hpsNqYe8130_assertion description "[Chylomicronemia syndrome presenting in childhood is a rare recessive disorder due to mutations of lipoprotein lipase (LPL) and more rarely of APOC2, APOA5, GPIHBP1 or LMF1 genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1047799.RAezdIPeGNPpyZXlvp2afS394fhwp0uYwSuY9hpsNqYe8130_provenance.
- NP1047799.RAezdIPeGNPpyZXlvp2afS394fhwp0uYwSuY9hpsNqYe8130_assertion evidence source_evidence_literature NP1047799.RAezdIPeGNPpyZXlvp2afS394fhwp0uYwSuY9hpsNqYe8130_provenance.
- NP1047799.RAezdIPeGNPpyZXlvp2afS394fhwp0uYwSuY9hpsNqYe8130_assertion SIO_000772 23357145 NP1047799.RAezdIPeGNPpyZXlvp2afS394fhwp0uYwSuY9hpsNqYe8130_provenance.
- NP1047799.RAezdIPeGNPpyZXlvp2afS394fhwp0uYwSuY9hpsNqYe8130_assertion wasDerivedFrom befree-2016 NP1047799.RAezdIPeGNPpyZXlvp2afS394fhwp0uYwSuY9hpsNqYe8130_provenance.
- NP1047799.RAezdIPeGNPpyZXlvp2afS394fhwp0uYwSuY9hpsNqYe8130_assertion wasGeneratedBy ECO_0000203 NP1047799.RAezdIPeGNPpyZXlvp2afS394fhwp0uYwSuY9hpsNqYe8130_provenance.