Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP755806.RAUtmCVTekftA8AVF9RRfWwJhrDP5m1N7LXEygCEI1_bc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP755806.RAUtmCVTekftA8AVF9RRfWwJhrDP5m1N7LXEygCEI1_bc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP755806.RAUtmCVTekftA8AVF9RRfWwJhrDP5m1N7LXEygCEI1_bc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP755806.RAUtmCVTekftA8AVF9RRfWwJhrDP5m1N7LXEygCEI1_bc130_provenance.
- NP755806.RAUtmCVTekftA8AVF9RRfWwJhrDP5m1N7LXEygCEI1_bc130_assertion wasGeneratedBy ECO_0000203 NP755806.RAUtmCVTekftA8AVF9RRfWwJhrDP5m1N7LXEygCEI1_bc130_provenance.
- NP755806.RAUtmCVTekftA8AVF9RRfWwJhrDP5m1N7LXEygCEI1_bc130_assertion wasDerivedFrom befree-20140225 NP755806.RAUtmCVTekftA8AVF9RRfWwJhrDP5m1N7LXEygCEI1_bc130_provenance.
- NP755806.RAUtmCVTekftA8AVF9RRfWwJhrDP5m1N7LXEygCEI1_bc130_assertion SIO_000772 8923010 NP755806.RAUtmCVTekftA8AVF9RRfWwJhrDP5m1N7LXEygCEI1_bc130_provenance.
- NP755806.RAUtmCVTekftA8AVF9RRfWwJhrDP5m1N7LXEygCEI1_bc130_assertion evidence source_evidence_literature NP755806.RAUtmCVTekftA8AVF9RRfWwJhrDP5m1N7LXEygCEI1_bc130_provenance.
- NP755806.RAUtmCVTekftA8AVF9RRfWwJhrDP5m1N7LXEygCEI1_bc130_assertion description "[Mutations in SUR have been identified in individuals affected with familial persistent hyper-insulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder of glucose metabolism which is linked to chromosome 11p15.1 and characterized by unregulated secretion of insulin and profound hypoglycemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP755806.RAUtmCVTekftA8AVF9RRfWwJhrDP5m1N7LXEygCEI1_bc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP755806.RAUtmCVTekftA8AVF9RRfWwJhrDP5m1N7LXEygCEI1_bc130_provenance.