Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP639127.RA8p5VZQtYIigB1W5gs3BwFekmRvxLSXwP7EErqR3QYN0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP639127.RA8p5VZQtYIigB1W5gs3BwFekmRvxLSXwP7EErqR3QYN0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP639127.RA8p5VZQtYIigB1W5gs3BwFekmRvxLSXwP7EErqR3QYN0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP639127.RA8p5VZQtYIigB1W5gs3BwFekmRvxLSXwP7EErqR3QYN0130_provenance.
- NP639127.RA8p5VZQtYIigB1W5gs3BwFekmRvxLSXwP7EErqR3QYN0130_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." NP639127.RA8p5VZQtYIigB1W5gs3BwFekmRvxLSXwP7EErqR3QYN0130_provenance.
- NP639127.RA8p5VZQtYIigB1W5gs3BwFekmRvxLSXwP7EErqR3QYN0130_assertion evidence source_evidence_literature NP639127.RA8p5VZQtYIigB1W5gs3BwFekmRvxLSXwP7EErqR3QYN0130_provenance.
- NP639127.RA8p5VZQtYIigB1W5gs3BwFekmRvxLSXwP7EErqR3QYN0130_assertion SIO_000772 19690084 NP639127.RA8p5VZQtYIigB1W5gs3BwFekmRvxLSXwP7EErqR3QYN0130_provenance.
- NP639127.RA8p5VZQtYIigB1W5gs3BwFekmRvxLSXwP7EErqR3QYN0130_assertion wasDerivedFrom befree-20140225 NP639127.RA8p5VZQtYIigB1W5gs3BwFekmRvxLSXwP7EErqR3QYN0130_provenance.
- NP639127.RA8p5VZQtYIigB1W5gs3BwFekmRvxLSXwP7EErqR3QYN0130_assertion wasGeneratedBy ECO_0000203 NP639127.RA8p5VZQtYIigB1W5gs3BwFekmRvxLSXwP7EErqR3QYN0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP639127.RA8p5VZQtYIigB1W5gs3BwFekmRvxLSXwP7EErqR3QYN0130_provenance.