Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP659138.RAf5JfbTFOo0BVQ_5tJjnfCCYzS1AURkp-HTqvllmbDuc130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP659138.RAf5JfbTFOo0BVQ_5tJjnfCCYzS1AURkp-HTqvllmbDuc130_assertion type Assertion NP659138.RAf5JfbTFOo0BVQ_5tJjnfCCYzS1AURkp-HTqvllmbDuc130_head.
- NP659138.RAf5JfbTFOo0BVQ_5tJjnfCCYzS1AURkp-HTqvllmbDuc130_assertion description "[l-2-Hydroxyglutaric aciduria (l-2-HGA) is characterized by progressive deterioration of central nervous system function including epilepsy and macrocephaly in 50% of cases, and elevated levels of l-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid (CSF).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP659138.RAf5JfbTFOo0BVQ_5tJjnfCCYzS1AURkp-HTqvllmbDuc130_provenance.
- NP659138.RAf5JfbTFOo0BVQ_5tJjnfCCYzS1AURkp-HTqvllmbDuc130_assertion evidence source_evidence_literature NP659138.RAf5JfbTFOo0BVQ_5tJjnfCCYzS1AURkp-HTqvllmbDuc130_provenance.
- NP659138.RAf5JfbTFOo0BVQ_5tJjnfCCYzS1AURkp-HTqvllmbDuc130_assertion SIO_000772 15385440 NP659138.RAf5JfbTFOo0BVQ_5tJjnfCCYzS1AURkp-HTqvllmbDuc130_provenance.
- NP659138.RAf5JfbTFOo0BVQ_5tJjnfCCYzS1AURkp-HTqvllmbDuc130_assertion wasDerivedFrom befree-20140225 NP659138.RAf5JfbTFOo0BVQ_5tJjnfCCYzS1AURkp-HTqvllmbDuc130_provenance.
- NP659138.RAf5JfbTFOo0BVQ_5tJjnfCCYzS1AURkp-HTqvllmbDuc130_assertion wasGeneratedBy ECO_0000203 NP659138.RAf5JfbTFOo0BVQ_5tJjnfCCYzS1AURkp-HTqvllmbDuc130_provenance.