Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP838015.RA3O5ZdfGpPx-4urJlZUhC2JTqLr_7CGop7SHLCrw43-8130_assertion> ?p ?o ?g. }
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- NP838015.RA3O5ZdfGpPx-4urJlZUhC2JTqLr_7CGop7SHLCrw43-8130_assertion type Assertion NP838015.RA3O5ZdfGpPx-4urJlZUhC2JTqLr_7CGop7SHLCrw43-8130_head.
- NP838015.RA3O5ZdfGpPx-4urJlZUhC2JTqLr_7CGop7SHLCrw43-8130_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." NP838015.RA3O5ZdfGpPx-4urJlZUhC2JTqLr_7CGop7SHLCrw43-8130_provenance.
- NP838015.RA3O5ZdfGpPx-4urJlZUhC2JTqLr_7CGop7SHLCrw43-8130_assertion evidence source_evidence_literature NP838015.RA3O5ZdfGpPx-4urJlZUhC2JTqLr_7CGop7SHLCrw43-8130_provenance.
- NP838015.RA3O5ZdfGpPx-4urJlZUhC2JTqLr_7CGop7SHLCrw43-8130_assertion SIO_000772 15050973 NP838015.RA3O5ZdfGpPx-4urJlZUhC2JTqLr_7CGop7SHLCrw43-8130_provenance.
- NP838015.RA3O5ZdfGpPx-4urJlZUhC2JTqLr_7CGop7SHLCrw43-8130_assertion wasDerivedFrom befree-20140225 NP838015.RA3O5ZdfGpPx-4urJlZUhC2JTqLr_7CGop7SHLCrw43-8130_provenance.
- NP838015.RA3O5ZdfGpPx-4urJlZUhC2JTqLr_7CGop7SHLCrw43-8130_assertion wasGeneratedBy ECO_0000203 NP838015.RA3O5ZdfGpPx-4urJlZUhC2JTqLr_7CGop7SHLCrw43-8130_provenance.