Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP7195.RAVxQk4_U3VhyfsTpGY1ckHoKAPt3Wg7avUK6Yk-ERIGA130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP7195.RAVxQk4_U3VhyfsTpGY1ckHoKAPt3Wg7avUK6Yk-ERIGA130_assertion type Assertion NP7195.RAVxQk4_U3VhyfsTpGY1ckHoKAPt3Wg7avUK6Yk-ERIGA130_head.
- NP7195.RAVxQk4_U3VhyfsTpGY1ckHoKAPt3Wg7avUK6Yk-ERIGA130_assertion wasGeneratedBy ECO_0000218 NP7195.RAVxQk4_U3VhyfsTpGY1ckHoKAPt3Wg7avUK6Yk-ERIGA130_provenance.
- NP7195.RAVxQk4_U3VhyfsTpGY1ckHoKAPt3Wg7avUK6Yk-ERIGA130_assertion wasDerivedFrom ctd_human-20130708 NP7195.RAVxQk4_U3VhyfsTpGY1ckHoKAPt3Wg7avUK6Yk-ERIGA130_provenance.
- NP7195.RAVxQk4_U3VhyfsTpGY1ckHoKAPt3Wg7avUK6Yk-ERIGA130_assertion SIO_000772 10407778 NP7195.RAVxQk4_U3VhyfsTpGY1ckHoKAPt3Wg7avUK6Yk-ERIGA130_provenance.
- NP7195.RAVxQk4_U3VhyfsTpGY1ckHoKAPt3Wg7avUK6Yk-ERIGA130_assertion evidence source_evidence_curated NP7195.RAVxQk4_U3VhyfsTpGY1ckHoKAPt3Wg7avUK6Yk-ERIGA130_provenance.
- NP7195.RAVxQk4_U3VhyfsTpGY1ckHoKAPt3Wg7avUK6Yk-ERIGA130_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." NP7195.RAVxQk4_U3VhyfsTpGY1ckHoKAPt3Wg7avUK6Yk-ERIGA130_provenance.