Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP495442.RAZ9kspUc8GtGylmtVWkDz52R34HFTktQXUWhZTpy1QD0130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP495442.RAZ9kspUc8GtGylmtVWkDz52R34HFTktQXUWhZTpy1QD0130_assertion type Assertion NP495442.RAZ9kspUc8GtGylmtVWkDz52R34HFTktQXUWhZTpy1QD0130_head.
- 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.