Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP882844.RAp7SZx_L3N7vd0tSUjB428BLpwIskTvi03Fj05eq3xk8130_assertion> ?p ?o ?g. }
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- NP882844.RAp7SZx_L3N7vd0tSUjB428BLpwIskTvi03Fj05eq3xk8130_assertion type Assertion NP882844.RAp7SZx_L3N7vd0tSUjB428BLpwIskTvi03Fj05eq3xk8130_head.
- NP882844.RAp7SZx_L3N7vd0tSUjB428BLpwIskTvi03Fj05eq3xk8130_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." NP882844.RAp7SZx_L3N7vd0tSUjB428BLpwIskTvi03Fj05eq3xk8130_provenance.
- NP882844.RAp7SZx_L3N7vd0tSUjB428BLpwIskTvi03Fj05eq3xk8130_assertion evidence source_evidence_literature NP882844.RAp7SZx_L3N7vd0tSUjB428BLpwIskTvi03Fj05eq3xk8130_provenance.
- NP882844.RAp7SZx_L3N7vd0tSUjB428BLpwIskTvi03Fj05eq3xk8130_assertion SIO_000772 15385440 NP882844.RAp7SZx_L3N7vd0tSUjB428BLpwIskTvi03Fj05eq3xk8130_provenance.
- NP882844.RAp7SZx_L3N7vd0tSUjB428BLpwIskTvi03Fj05eq3xk8130_assertion wasDerivedFrom befree-20140225 NP882844.RAp7SZx_L3N7vd0tSUjB428BLpwIskTvi03Fj05eq3xk8130_provenance.
- NP882844.RAp7SZx_L3N7vd0tSUjB428BLpwIskTvi03Fj05eq3xk8130_assertion wasGeneratedBy ECO_0000203 NP882844.RAp7SZx_L3N7vd0tSUjB428BLpwIskTvi03Fj05eq3xk8130_provenance.