Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1058077.RAryVo61YStsmAylfqfzmhEWDu4eueh8aPxfNnm3Gyuug130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1058077.RAryVo61YStsmAylfqfzmhEWDu4eueh8aPxfNnm3Gyuug130_assertion type Assertion NP1058077.RAryVo61YStsmAylfqfzmhEWDu4eueh8aPxfNnm3Gyuug130_head.
- NP1058077.RAryVo61YStsmAylfqfzmhEWDu4eueh8aPxfNnm3Gyuug130_assertion description "[Thus, in hGDH1, regulatory mutations that attenuate GTP inhibition can result in the hyperinsulinism/hyperammonemia syndrome, which is often associated with epileptic seizures, mental retardation, and generalized dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1058077.RAryVo61YStsmAylfqfzmhEWDu4eueh8aPxfNnm3Gyuug130_provenance.
- NP1058077.RAryVo61YStsmAylfqfzmhEWDu4eueh8aPxfNnm3Gyuug130_assertion evidence source_evidence_literature NP1058077.RAryVo61YStsmAylfqfzmhEWDu4eueh8aPxfNnm3Gyuug130_provenance.
- NP1058077.RAryVo61YStsmAylfqfzmhEWDu4eueh8aPxfNnm3Gyuug130_assertion SIO_000772 23463419 NP1058077.RAryVo61YStsmAylfqfzmhEWDu4eueh8aPxfNnm3Gyuug130_provenance.
- NP1058077.RAryVo61YStsmAylfqfzmhEWDu4eueh8aPxfNnm3Gyuug130_assertion wasDerivedFrom befree-2016 NP1058077.RAryVo61YStsmAylfqfzmhEWDu4eueh8aPxfNnm3Gyuug130_provenance.
- NP1058077.RAryVo61YStsmAylfqfzmhEWDu4eueh8aPxfNnm3Gyuug130_assertion wasGeneratedBy ECO_0000203 NP1058077.RAryVo61YStsmAylfqfzmhEWDu4eueh8aPxfNnm3Gyuug130_provenance.