Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP495442.RAZ9kspUc8GtGylmtVWkDz52R34HFTktQXUWhZTpy1QD0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP495442.RAZ9kspUc8GtGylmtVWkDz52R34HFTktQXUWhZTpy1QD0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP495442.RAZ9kspUc8GtGylmtVWkDz52R34HFTktQXUWhZTpy1QD0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP495442.RAZ9kspUc8GtGylmtVWkDz52R34HFTktQXUWhZTpy1QD0130_provenance.
- NP495442.RAZ9kspUc8GtGylmtVWkDz52R34HFTktQXUWhZTpy1QD0130_assertion description "[Homozygous or compound heterozygous mutations within the insulin binding domain of the human insulin receptor (INSR) are usually associated with severe impairment of insulin binding leading to Donohue syndrome (`Leprechaunism`), which is characterized by excessive hyperglycemia with hyperinsulinism, pre- and postnatal growth retardation, distinct dysmorphism and early death.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP495442.RAZ9kspUc8GtGylmtVWkDz52R34HFTktQXUWhZTpy1QD0130_provenance.
- NP495442.RAZ9kspUc8GtGylmtVWkDz52R34HFTktQXUWhZTpy1QD0130_assertion evidence source_evidence_literature NP495442.RAZ9kspUc8GtGylmtVWkDz52R34HFTktQXUWhZTpy1QD0130_provenance.
- NP495442.RAZ9kspUc8GtGylmtVWkDz52R34HFTktQXUWhZTpy1QD0130_assertion SIO_000772 18411068 NP495442.RAZ9kspUc8GtGylmtVWkDz52R34HFTktQXUWhZTpy1QD0130_provenance.
- NP495442.RAZ9kspUc8GtGylmtVWkDz52R34HFTktQXUWhZTpy1QD0130_assertion wasDerivedFrom befree-20140225 NP495442.RAZ9kspUc8GtGylmtVWkDz52R34HFTktQXUWhZTpy1QD0130_provenance.
- NP495442.RAZ9kspUc8GtGylmtVWkDz52R34HFTktQXUWhZTpy1QD0130_assertion wasGeneratedBy ECO_0000203 NP495442.RAZ9kspUc8GtGylmtVWkDz52R34HFTktQXUWhZTpy1QD0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP495442.RAZ9kspUc8GtGylmtVWkDz52R34HFTktQXUWhZTpy1QD0130_provenance.