Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP312496.RAdw47y7kHK7n22BBiRa6tDvYztT3lHx9N5UcqJ-vB97Y130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP312496.RAdw47y7kHK7n22BBiRa6tDvYztT3lHx9N5UcqJ-vB97Y130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP312496.RAdw47y7kHK7n22BBiRa6tDvYztT3lHx9N5UcqJ-vB97Y130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP312496.RAdw47y7kHK7n22BBiRa6tDvYztT3lHx9N5UcqJ-vB97Y130_provenance.
- NP312496.RAdw47y7kHK7n22BBiRa6tDvYztT3lHx9N5UcqJ-vB97Y130_assertion description "[The second most common form of congenital hyperinsulinism, the hyperinsulinism/hyperammonemia syndrome (HI/HA), is associated with dominantly expressed missense mutations of the mitochondrial matrix enzyme, glutamate dehydrogenase (GDH).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP312496.RAdw47y7kHK7n22BBiRa6tDvYztT3lHx9N5UcqJ-vB97Y130_provenance.
- NP312496.RAdw47y7kHK7n22BBiRa6tDvYztT3lHx9N5UcqJ-vB97Y130_assertion evidence source_evidence_literature NP312496.RAdw47y7kHK7n22BBiRa6tDvYztT3lHx9N5UcqJ-vB97Y130_provenance.
- NP312496.RAdw47y7kHK7n22BBiRa6tDvYztT3lHx9N5UcqJ-vB97Y130_assertion SIO_000772 15050973 NP312496.RAdw47y7kHK7n22BBiRa6tDvYztT3lHx9N5UcqJ-vB97Y130_provenance.
- NP312496.RAdw47y7kHK7n22BBiRa6tDvYztT3lHx9N5UcqJ-vB97Y130_assertion wasDerivedFrom befree-20140225 NP312496.RAdw47y7kHK7n22BBiRa6tDvYztT3lHx9N5UcqJ-vB97Y130_provenance.
- NP312496.RAdw47y7kHK7n22BBiRa6tDvYztT3lHx9N5UcqJ-vB97Y130_assertion wasGeneratedBy ECO_0000203 NP312496.RAdw47y7kHK7n22BBiRa6tDvYztT3lHx9N5UcqJ-vB97Y130_provenance.
- befree-20140225 importedOn "2014-02-25" NP312496.RAdw47y7kHK7n22BBiRa6tDvYztT3lHx9N5UcqJ-vB97Y130_provenance.