Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP513510.RAAeXzpywCZC7UHl5WHnxMgxu3L0fOUk6WLEg7FibSNRI130_assertion> ?p ?o ?g. }
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- NP513510.RAAeXzpywCZC7UHl5WHnxMgxu3L0fOUk6WLEg7FibSNRI130_assertion type Assertion NP513510.RAAeXzpywCZC7UHl5WHnxMgxu3L0fOUk6WLEg7FibSNRI130_head.
- NP513510.RAAeXzpywCZC7UHl5WHnxMgxu3L0fOUk6WLEg7FibSNRI130_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." NP513510.RAAeXzpywCZC7UHl5WHnxMgxu3L0fOUk6WLEg7FibSNRI130_provenance.
- NP513510.RAAeXzpywCZC7UHl5WHnxMgxu3L0fOUk6WLEg7FibSNRI130_assertion evidence source_evidence_literature NP513510.RAAeXzpywCZC7UHl5WHnxMgxu3L0fOUk6WLEg7FibSNRI130_provenance.
- NP513510.RAAeXzpywCZC7UHl5WHnxMgxu3L0fOUk6WLEg7FibSNRI130_assertion SIO_000772 18411068 NP513510.RAAeXzpywCZC7UHl5WHnxMgxu3L0fOUk6WLEg7FibSNRI130_provenance.
- NP513510.RAAeXzpywCZC7UHl5WHnxMgxu3L0fOUk6WLEg7FibSNRI130_assertion wasDerivedFrom befree-20150227 NP513510.RAAeXzpywCZC7UHl5WHnxMgxu3L0fOUk6WLEg7FibSNRI130_provenance.
- NP513510.RAAeXzpywCZC7UHl5WHnxMgxu3L0fOUk6WLEg7FibSNRI130_assertion wasGeneratedBy ECO_0000203 NP513510.RAAeXzpywCZC7UHl5WHnxMgxu3L0fOUk6WLEg7FibSNRI130_provenance.