Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP517070.RADY0p_e-V7fSYgJaEFp-y_JsSTep6zuMMC3iI-EHvsZM130_assertion> ?p ?o ?g. }
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- NP517070.RADY0p_e-V7fSYgJaEFp-y_JsSTep6zuMMC3iI-EHvsZM130_assertion type Assertion NP517070.RADY0p_e-V7fSYgJaEFp-y_JsSTep6zuMMC3iI-EHvsZM130_head.
- NP517070.RADY0p_e-V7fSYgJaEFp-y_JsSTep6zuMMC3iI-EHvsZM130_assertion wasGeneratedBy ECO_0000203 NP517070.RADY0p_e-V7fSYgJaEFp-y_JsSTep6zuMMC3iI-EHvsZM130_provenance.
- NP517070.RADY0p_e-V7fSYgJaEFp-y_JsSTep6zuMMC3iI-EHvsZM130_assertion wasDerivedFrom befree-20140225 NP517070.RADY0p_e-V7fSYgJaEFp-y_JsSTep6zuMMC3iI-EHvsZM130_provenance.
- NP517070.RADY0p_e-V7fSYgJaEFp-y_JsSTep6zuMMC3iI-EHvsZM130_assertion SIO_000772 8923010 NP517070.RADY0p_e-V7fSYgJaEFp-y_JsSTep6zuMMC3iI-EHvsZM130_provenance.
- NP517070.RADY0p_e-V7fSYgJaEFp-y_JsSTep6zuMMC3iI-EHvsZM130_assertion evidence source_evidence_literature NP517070.RADY0p_e-V7fSYgJaEFp-y_JsSTep6zuMMC3iI-EHvsZM130_provenance.
- NP517070.RADY0p_e-V7fSYgJaEFp-y_JsSTep6zuMMC3iI-EHvsZM130_assertion description "[Mutations in SUR have been identified in individuals affected with familial persistent hyper-insulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder of glucose metabolism which is linked to chromosome 11p15.1 and characterized by unregulated secretion of insulin and profound hypoglycemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP517070.RADY0p_e-V7fSYgJaEFp-y_JsSTep6zuMMC3iI-EHvsZM130_provenance.