Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP513933.RAlA5Um_dbU1EzGtszMw-_xgohytDXlTQY47bhIsjViYA130_assertion> ?p ?o ?g. }
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- NP513933.RAlA5Um_dbU1EzGtszMw-_xgohytDXlTQY47bhIsjViYA130_assertion type Assertion NP513933.RAlA5Um_dbU1EzGtszMw-_xgohytDXlTQY47bhIsjViYA130_head.
- NP513933.RAlA5Um_dbU1EzGtszMw-_xgohytDXlTQY47bhIsjViYA130_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." NP513933.RAlA5Um_dbU1EzGtszMw-_xgohytDXlTQY47bhIsjViYA130_provenance.
- NP513933.RAlA5Um_dbU1EzGtszMw-_xgohytDXlTQY47bhIsjViYA130_assertion evidence source_evidence_literature NP513933.RAlA5Um_dbU1EzGtszMw-_xgohytDXlTQY47bhIsjViYA130_provenance.
- NP513933.RAlA5Um_dbU1EzGtszMw-_xgohytDXlTQY47bhIsjViYA130_assertion SIO_000772 18411068 NP513933.RAlA5Um_dbU1EzGtszMw-_xgohytDXlTQY47bhIsjViYA130_provenance.
- NP513933.RAlA5Um_dbU1EzGtszMw-_xgohytDXlTQY47bhIsjViYA130_assertion wasDerivedFrom befree-20150227 NP513933.RAlA5Um_dbU1EzGtszMw-_xgohytDXlTQY47bhIsjViYA130_provenance.
- NP513933.RAlA5Um_dbU1EzGtszMw-_xgohytDXlTQY47bhIsjViYA130_assertion wasGeneratedBy ECO_0000203 NP513933.RAlA5Um_dbU1EzGtszMw-_xgohytDXlTQY47bhIsjViYA130_provenance.