Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP310724.RATTuT-C9bAabmsE-IzzW6_9nGv0ujQcKQM7W4HFVca8s130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP310724.RATTuT-C9bAabmsE-IzzW6_9nGv0ujQcKQM7W4HFVca8s130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP310724.RATTuT-C9bAabmsE-IzzW6_9nGv0ujQcKQM7W4HFVca8s130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP310724.RATTuT-C9bAabmsE-IzzW6_9nGv0ujQcKQM7W4HFVca8s130_provenance.
- NP310724.RATTuT-C9bAabmsE-IzzW6_9nGv0ujQcKQM7W4HFVca8s130_assertion description "[The hyperinsulinism-hyperammonemia syndrome (HHS) has been shown to result from 'gain-of-function' mutations of the glutamate dehydrogenase (GlDH) gene, GLUD1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP310724.RATTuT-C9bAabmsE-IzzW6_9nGv0ujQcKQM7W4HFVca8s130_provenance.
- NP310724.RATTuT-C9bAabmsE-IzzW6_9nGv0ujQcKQM7W4HFVca8s130_assertion evidence source_evidence_literature NP310724.RATTuT-C9bAabmsE-IzzW6_9nGv0ujQcKQM7W4HFVca8s130_provenance.
- NP310724.RATTuT-C9bAabmsE-IzzW6_9nGv0ujQcKQM7W4HFVca8s130_assertion SIO_000772 11214910 NP310724.RATTuT-C9bAabmsE-IzzW6_9nGv0ujQcKQM7W4HFVca8s130_provenance.
- NP310724.RATTuT-C9bAabmsE-IzzW6_9nGv0ujQcKQM7W4HFVca8s130_assertion wasDerivedFrom befree-20140225 NP310724.RATTuT-C9bAabmsE-IzzW6_9nGv0ujQcKQM7W4HFVca8s130_provenance.
- NP310724.RATTuT-C9bAabmsE-IzzW6_9nGv0ujQcKQM7W4HFVca8s130_assertion wasGeneratedBy ECO_0000203 NP310724.RATTuT-C9bAabmsE-IzzW6_9nGv0ujQcKQM7W4HFVca8s130_provenance.
- befree-20140225 importedOn "2014-02-25" NP310724.RATTuT-C9bAabmsE-IzzW6_9nGv0ujQcKQM7W4HFVca8s130_provenance.