Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1008497.RA5ClBcNMyJheKAjStqzPECNW_7MlvV5YmEb4e3zdUbPw130_assertion> ?p ?o ?g. }
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- NP1008497.RA5ClBcNMyJheKAjStqzPECNW_7MlvV5YmEb4e3zdUbPw130_assertion type Assertion NP1008497.RA5ClBcNMyJheKAjStqzPECNW_7MlvV5YmEb4e3zdUbPw130_head.
- NP1008497.RA5ClBcNMyJheKAjStqzPECNW_7MlvV5YmEb4e3zdUbPw130_assertion wasGeneratedBy ECO_0000203 NP1008497.RA5ClBcNMyJheKAjStqzPECNW_7MlvV5YmEb4e3zdUbPw130_provenance.
- NP1008497.RA5ClBcNMyJheKAjStqzPECNW_7MlvV5YmEb4e3zdUbPw130_assertion wasDerivedFrom befree-20150227 NP1008497.RA5ClBcNMyJheKAjStqzPECNW_7MlvV5YmEb4e3zdUbPw130_provenance.
- NP1008497.RA5ClBcNMyJheKAjStqzPECNW_7MlvV5YmEb4e3zdUbPw130_assertion SIO_000772 8923010 NP1008497.RA5ClBcNMyJheKAjStqzPECNW_7MlvV5YmEb4e3zdUbPw130_provenance.
- NP1008497.RA5ClBcNMyJheKAjStqzPECNW_7MlvV5YmEb4e3zdUbPw130_assertion evidence source_evidence_literature NP1008497.RA5ClBcNMyJheKAjStqzPECNW_7MlvV5YmEb4e3zdUbPw130_provenance.
- NP1008497.RA5ClBcNMyJheKAjStqzPECNW_7MlvV5YmEb4e3zdUbPw130_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." NP1008497.RA5ClBcNMyJheKAjStqzPECNW_7MlvV5YmEb4e3zdUbPw130_provenance.