Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_assertion> ?p ?o ?g. }
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- NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_assertion type Assertion NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_head.
- NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_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." NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_provenance.
- NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_assertion evidence source_evidence_literature NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_provenance.
- NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_assertion SIO_000772 18411068 NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_provenance.
- NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_assertion wasDerivedFrom befree-20150227 NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_provenance.
- NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_assertion wasGeneratedBy ECO_0000203 NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_provenance.