Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP7200.RAUlQ25UGZP2TTgKrR7IaOmGMX9c245tSJNTYgz3z_0c4130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP7200.RAUlQ25UGZP2TTgKrR7IaOmGMX9c245tSJNTYgz3z_0c4130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7200.RAUlQ25UGZP2TTgKrR7IaOmGMX9c245tSJNTYgz3z_0c4130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7200.RAUlQ25UGZP2TTgKrR7IaOmGMX9c245tSJNTYgz3z_0c4130_provenance.
- NP7200.RAUlQ25UGZP2TTgKrR7IaOmGMX9c245tSJNTYgz3z_0c4130_assertion wasGeneratedBy ECO_0000218 NP7200.RAUlQ25UGZP2TTgKrR7IaOmGMX9c245tSJNTYgz3z_0c4130_provenance.
- NP7200.RAUlQ25UGZP2TTgKrR7IaOmGMX9c245tSJNTYgz3z_0c4130_assertion wasDerivedFrom ctd_human-20130708 NP7200.RAUlQ25UGZP2TTgKrR7IaOmGMX9c245tSJNTYgz3z_0c4130_provenance.
- NP7200.RAUlQ25UGZP2TTgKrR7IaOmGMX9c245tSJNTYgz3z_0c4130_assertion SIO_000772 10407778 NP7200.RAUlQ25UGZP2TTgKrR7IaOmGMX9c245tSJNTYgz3z_0c4130_provenance.
- NP7200.RAUlQ25UGZP2TTgKrR7IaOmGMX9c245tSJNTYgz3z_0c4130_assertion evidence source_evidence_curated NP7200.RAUlQ25UGZP2TTgKrR7IaOmGMX9c245tSJNTYgz3z_0c4130_provenance.
- NP7200.RAUlQ25UGZP2TTgKrR7IaOmGMX9c245tSJNTYgz3z_0c4130_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." NP7200.RAUlQ25UGZP2TTgKrR7IaOmGMX9c245tSJNTYgz3z_0c4130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP7200.RAUlQ25UGZP2TTgKrR7IaOmGMX9c245tSJNTYgz3z_0c4130_provenance.