Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP656865.RAnKmOg8v0SeEcVRFcXKeN12eo8nn7fuKRsX8j5I9DxXw130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP656865.RAnKmOg8v0SeEcVRFcXKeN12eo8nn7fuKRsX8j5I9DxXw130_assertion type Assertion NP656865.RAnKmOg8v0SeEcVRFcXKeN12eo8nn7fuKRsX8j5I9DxXw130_head.
- NP656865.RAnKmOg8v0SeEcVRFcXKeN12eo8nn7fuKRsX8j5I9DxXw130_assertion description "[The second most common form of congenital hyperinsulinism, the hyperinsulinism/hyperammonemia syndrome (HI/HA), is associated with dominantly expressed missense mutations of the mitochondrial matrix enzyme, glutamate dehydrogenase (GDH).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP656865.RAnKmOg8v0SeEcVRFcXKeN12eo8nn7fuKRsX8j5I9DxXw130_provenance.
- NP656865.RAnKmOg8v0SeEcVRFcXKeN12eo8nn7fuKRsX8j5I9DxXw130_assertion evidence source_evidence_literature NP656865.RAnKmOg8v0SeEcVRFcXKeN12eo8nn7fuKRsX8j5I9DxXw130_provenance.
- NP656865.RAnKmOg8v0SeEcVRFcXKeN12eo8nn7fuKRsX8j5I9DxXw130_assertion SIO_000772 15050973 NP656865.RAnKmOg8v0SeEcVRFcXKeN12eo8nn7fuKRsX8j5I9DxXw130_provenance.
- NP656865.RAnKmOg8v0SeEcVRFcXKeN12eo8nn7fuKRsX8j5I9DxXw130_assertion wasDerivedFrom befree-20140225 NP656865.RAnKmOg8v0SeEcVRFcXKeN12eo8nn7fuKRsX8j5I9DxXw130_provenance.
- NP656865.RAnKmOg8v0SeEcVRFcXKeN12eo8nn7fuKRsX8j5I9DxXw130_assertion wasGeneratedBy ECO_0000203 NP656865.RAnKmOg8v0SeEcVRFcXKeN12eo8nn7fuKRsX8j5I9DxXw130_provenance.