Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP669227.RAvyIIfQFiizlReHA23Y0mjQVNRH3OYON2zjv6EuOoWA8130_assertion> ?p ?o ?g. }
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- NP669227.RAvyIIfQFiizlReHA23Y0mjQVNRH3OYON2zjv6EuOoWA8130_assertion type Assertion NP669227.RAvyIIfQFiizlReHA23Y0mjQVNRH3OYON2zjv6EuOoWA8130_head.
- NP669227.RAvyIIfQFiizlReHA23Y0mjQVNRH3OYON2zjv6EuOoWA8130_assertion description "[Activating mutations in the GLUD1 gene (which encodes for the intra-mitochondrial enzyme glutamate dehydrogenase, GDH) cause the hyperinsulinism-hyperammonaemia (HI/HA) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP669227.RAvyIIfQFiizlReHA23Y0mjQVNRH3OYON2zjv6EuOoWA8130_provenance.
- NP669227.RAvyIIfQFiizlReHA23Y0mjQVNRH3OYON2zjv6EuOoWA8130_assertion evidence source_evidence_literature NP669227.RAvyIIfQFiizlReHA23Y0mjQVNRH3OYON2zjv6EuOoWA8130_provenance.
- NP669227.RAvyIIfQFiizlReHA23Y0mjQVNRH3OYON2zjv6EuOoWA8130_assertion SIO_000772 19690084 NP669227.RAvyIIfQFiizlReHA23Y0mjQVNRH3OYON2zjv6EuOoWA8130_provenance.
- NP669227.RAvyIIfQFiizlReHA23Y0mjQVNRH3OYON2zjv6EuOoWA8130_assertion wasDerivedFrom befree-20140225 NP669227.RAvyIIfQFiizlReHA23Y0mjQVNRH3OYON2zjv6EuOoWA8130_provenance.
- NP669227.RAvyIIfQFiizlReHA23Y0mjQVNRH3OYON2zjv6EuOoWA8130_assertion wasGeneratedBy ECO_0000203 NP669227.RAvyIIfQFiizlReHA23Y0mjQVNRH3OYON2zjv6EuOoWA8130_provenance.