Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP657686.RAidWs6rkFo7P3xNr7D6okEZ-leCIJCjFdzPx1weYt3rc130_assertion> ?p ?o ?g. }
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- NP657686.RAidWs6rkFo7P3xNr7D6okEZ-leCIJCjFdzPx1weYt3rc130_assertion type Assertion NP657686.RAidWs6rkFo7P3xNr7D6okEZ-leCIJCjFdzPx1weYt3rc130_head.
- NP657686.RAidWs6rkFo7P3xNr7D6okEZ-leCIJCjFdzPx1weYt3rc130_assertion description "[It has been known for some time that loss of function mutations in KCNJ11, which encodes for Kir6.2, and ABCC8, which encodes for SUR1, can cause oversecretion of insulin and result in hyperinsulinism of infancy, while activating mutations in KCNJ11 and ABCC8 have recently been described that result in the opposite phenotype of diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP657686.RAidWs6rkFo7P3xNr7D6okEZ-leCIJCjFdzPx1weYt3rc130_provenance.
- NP657686.RAidWs6rkFo7P3xNr7D6okEZ-leCIJCjFdzPx1weYt3rc130_assertion evidence source_evidence_literature NP657686.RAidWs6rkFo7P3xNr7D6okEZ-leCIJCjFdzPx1weYt3rc130_provenance.
- NP657686.RAidWs6rkFo7P3xNr7D6okEZ-leCIJCjFdzPx1weYt3rc130_assertion SIO_000772 18767144 NP657686.RAidWs6rkFo7P3xNr7D6okEZ-leCIJCjFdzPx1weYt3rc130_provenance.
- NP657686.RAidWs6rkFo7P3xNr7D6okEZ-leCIJCjFdzPx1weYt3rc130_assertion wasDerivedFrom befree-20140225 NP657686.RAidWs6rkFo7P3xNr7D6okEZ-leCIJCjFdzPx1weYt3rc130_provenance.
- NP657686.RAidWs6rkFo7P3xNr7D6okEZ-leCIJCjFdzPx1weYt3rc130_assertion wasGeneratedBy ECO_0000203 NP657686.RAidWs6rkFo7P3xNr7D6okEZ-leCIJCjFdzPx1weYt3rc130_provenance.