Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP20360.RAAwn1ttc3lIOAPr-aoHETtA_UvNN1qAam877VhA0Yb30130_assertion> ?p ?o ?g. }
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- NP20360.RAAwn1ttc3lIOAPr-aoHETtA_UvNN1qAam877VhA0Yb30130_assertion type Assertion NP20360.RAAwn1ttc3lIOAPr-aoHETtA_UvNN1qAam877VhA0Yb30130_head.
- NP20360.RAAwn1ttc3lIOAPr-aoHETtA_UvNN1qAam877VhA0Yb30130_assertion description "[We report on a 13-year-old girl with Donohue syndrome like dysmorphism, hyperinsulinism and prolonged survival due to two novel INSR missense mutations within the insulin binding domain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP20360.RAAwn1ttc3lIOAPr-aoHETtA_UvNN1qAam877VhA0Yb30130_provenance.
- NP20360.RAAwn1ttc3lIOAPr-aoHETtA_UvNN1qAam877VhA0Yb30130_assertion evidence source_evidence_curated NP20360.RAAwn1ttc3lIOAPr-aoHETtA_UvNN1qAam877VhA0Yb30130_provenance.
- NP20360.RAAwn1ttc3lIOAPr-aoHETtA_UvNN1qAam877VhA0Yb30130_assertion SIO_000772 18411068 NP20360.RAAwn1ttc3lIOAPr-aoHETtA_UvNN1qAam877VhA0Yb30130_provenance.
- NP20360.RAAwn1ttc3lIOAPr-aoHETtA_UvNN1qAam877VhA0Yb30130_assertion wasDerivedFrom ctd_human-20130708 NP20360.RAAwn1ttc3lIOAPr-aoHETtA_UvNN1qAam877VhA0Yb30130_provenance.
- NP20360.RAAwn1ttc3lIOAPr-aoHETtA_UvNN1qAam877VhA0Yb30130_assertion wasGeneratedBy ECO_0000218 NP20360.RAAwn1ttc3lIOAPr-aoHETtA_UvNN1qAam877VhA0Yb30130_provenance.