Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_assertion> ?p ?o ?g. }
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- NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_assertion type Assertion NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_head.
- NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_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." NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_provenance.
- NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_assertion evidence source_evidence_literature NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_provenance.
- NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_assertion SIO_000772 23463419 NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_provenance.
- NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_assertion wasDerivedFrom befree-20150227 NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_provenance.
- NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_assertion wasGeneratedBy ECO_0000203 NP961694.RASN09FoJoJANUqZkndUjcbhoz5FtVXYi2BfdB22hzbbM130_provenance.