Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP7199.RAQoeRXFXNssdgYFxjqlDkWeVtxA8GKH7I1LQbrf42Lkw130_assertion> ?p ?o ?g. }
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- NP7199.RAQoeRXFXNssdgYFxjqlDkWeVtxA8GKH7I1LQbrf42Lkw130_assertion type Assertion NP7199.RAQoeRXFXNssdgYFxjqlDkWeVtxA8GKH7I1LQbrf42Lkw130_head.
- NP7199.RAQoeRXFXNssdgYFxjqlDkWeVtxA8GKH7I1LQbrf42Lkw130_assertion wasGeneratedBy ECO_0000218 NP7199.RAQoeRXFXNssdgYFxjqlDkWeVtxA8GKH7I1LQbrf42Lkw130_provenance.
- NP7199.RAQoeRXFXNssdgYFxjqlDkWeVtxA8GKH7I1LQbrf42Lkw130_assertion wasDerivedFrom ctd_human-20130708 NP7199.RAQoeRXFXNssdgYFxjqlDkWeVtxA8GKH7I1LQbrf42Lkw130_provenance.
- NP7199.RAQoeRXFXNssdgYFxjqlDkWeVtxA8GKH7I1LQbrf42Lkw130_assertion SIO_000772 10407778 NP7199.RAQoeRXFXNssdgYFxjqlDkWeVtxA8GKH7I1LQbrf42Lkw130_provenance.
- NP7199.RAQoeRXFXNssdgYFxjqlDkWeVtxA8GKH7I1LQbrf42Lkw130_assertion evidence source_evidence_curated NP7199.RAQoeRXFXNssdgYFxjqlDkWeVtxA8GKH7I1LQbrf42Lkw130_provenance.
- NP7199.RAQoeRXFXNssdgYFxjqlDkWeVtxA8GKH7I1LQbrf42Lkw130_assertion description "[Compared to the other defects of GABA degradation, succinic semialdehyde dehydrogenase (SSADH, EC 1.2.1.24) deficiency with > 150 patients (McKusick 271980) and pyridoxine-dependent seizures with > 100 patients ('putative' glutamic acid decarboxylase (GAD, EC 4.1.1.15) deficiency; McKusick 266100), GABA-T deficiency is very rare.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7199.RAQoeRXFXNssdgYFxjqlDkWeVtxA8GKH7I1LQbrf42Lkw130_provenance.