Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP822317.RAldYAL-oaltDanHq6DWGUu1TmNAcOtvzGaXcYx_dKzOQ130_assertion> ?p ?o ?g. }
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- NP822317.RAldYAL-oaltDanHq6DWGUu1TmNAcOtvzGaXcYx_dKzOQ130_assertion type Assertion NP822317.RAldYAL-oaltDanHq6DWGUu1TmNAcOtvzGaXcYx_dKzOQ130_head.
- NP822317.RAldYAL-oaltDanHq6DWGUu1TmNAcOtvzGaXcYx_dKzOQ130_assertion wasGeneratedBy ECO_0000203 NP822317.RAldYAL-oaltDanHq6DWGUu1TmNAcOtvzGaXcYx_dKzOQ130_provenance.
- NP822317.RAldYAL-oaltDanHq6DWGUu1TmNAcOtvzGaXcYx_dKzOQ130_assertion wasDerivedFrom befree-20140225 NP822317.RAldYAL-oaltDanHq6DWGUu1TmNAcOtvzGaXcYx_dKzOQ130_provenance.
- NP822317.RAldYAL-oaltDanHq6DWGUu1TmNAcOtvzGaXcYx_dKzOQ130_assertion SIO_000772 8923010 NP822317.RAldYAL-oaltDanHq6DWGUu1TmNAcOtvzGaXcYx_dKzOQ130_provenance.
- NP822317.RAldYAL-oaltDanHq6DWGUu1TmNAcOtvzGaXcYx_dKzOQ130_assertion evidence source_evidence_literature NP822317.RAldYAL-oaltDanHq6DWGUu1TmNAcOtvzGaXcYx_dKzOQ130_provenance.
- NP822317.RAldYAL-oaltDanHq6DWGUu1TmNAcOtvzGaXcYx_dKzOQ130_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." NP822317.RAldYAL-oaltDanHq6DWGUu1TmNAcOtvzGaXcYx_dKzOQ130_provenance.