Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP665720.RA46NT-gJTsB_4MJ9h0uaSoA0oeAmFXy6p7DITHDiK33o130_assertion> ?p ?o ?g. }
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- NP665720.RA46NT-gJTsB_4MJ9h0uaSoA0oeAmFXy6p7DITHDiK33o130_assertion type Assertion NP665720.RA46NT-gJTsB_4MJ9h0uaSoA0oeAmFXy6p7DITHDiK33o130_head.
- NP665720.RA46NT-gJTsB_4MJ9h0uaSoA0oeAmFXy6p7DITHDiK33o130_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." NP665720.RA46NT-gJTsB_4MJ9h0uaSoA0oeAmFXy6p7DITHDiK33o130_provenance.
- NP665720.RA46NT-gJTsB_4MJ9h0uaSoA0oeAmFXy6p7DITHDiK33o130_assertion evidence source_evidence_literature NP665720.RA46NT-gJTsB_4MJ9h0uaSoA0oeAmFXy6p7DITHDiK33o130_provenance.
- NP665720.RA46NT-gJTsB_4MJ9h0uaSoA0oeAmFXy6p7DITHDiK33o130_assertion SIO_000772 18411068 NP665720.RA46NT-gJTsB_4MJ9h0uaSoA0oeAmFXy6p7DITHDiK33o130_provenance.
- NP665720.RA46NT-gJTsB_4MJ9h0uaSoA0oeAmFXy6p7DITHDiK33o130_assertion wasDerivedFrom befree-2016 NP665720.RA46NT-gJTsB_4MJ9h0uaSoA0oeAmFXy6p7DITHDiK33o130_provenance.
- NP665720.RA46NT-gJTsB_4MJ9h0uaSoA0oeAmFXy6p7DITHDiK33o130_assertion wasGeneratedBy ECO_0000203 NP665720.RA46NT-gJTsB_4MJ9h0uaSoA0oeAmFXy6p7DITHDiK33o130_provenance.