Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP128829.RA1piaO0Ty-IufySI2zqPQ_IEJTEFk1AWmog7zk1qUm_M130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP128829.RA1piaO0Ty-IufySI2zqPQ_IEJTEFk1AWmog7zk1qUm_M130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP128829.RA1piaO0Ty-IufySI2zqPQ_IEJTEFk1AWmog7zk1qUm_M130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP128829.RA1piaO0Ty-IufySI2zqPQ_IEJTEFk1AWmog7zk1qUm_M130_provenance.
- NP128829.RA1piaO0Ty-IufySI2zqPQ_IEJTEFk1AWmog7zk1qUm_M130_assertion wasGeneratedBy ECO_0000203 NP128829.RA1piaO0Ty-IufySI2zqPQ_IEJTEFk1AWmog7zk1qUm_M130_provenance.
- NP128829.RA1piaO0Ty-IufySI2zqPQ_IEJTEFk1AWmog7zk1qUm_M130_assertion wasDerivedFrom lhgdn-20090331 NP128829.RA1piaO0Ty-IufySI2zqPQ_IEJTEFk1AWmog7zk1qUm_M130_provenance.
- NP128829.RA1piaO0Ty-IufySI2zqPQ_IEJTEFk1AWmog7zk1qUm_M130_assertion SIO_000772 18413471 NP128829.RA1piaO0Ty-IufySI2zqPQ_IEJTEFk1AWmog7zk1qUm_M130_provenance.
- NP128829.RA1piaO0Ty-IufySI2zqPQ_IEJTEFk1AWmog7zk1qUm_M130_assertion evidence source_evidence_literature NP128829.RA1piaO0Ty-IufySI2zqPQ_IEJTEFk1AWmog7zk1qUm_M130_provenance.
- NP128829.RA1piaO0Ty-IufySI2zqPQ_IEJTEFk1AWmog7zk1qUm_M130_assertion description "[No large deletions at the SCN1A locus were found in any of the patients/different point mutations were identified in 12 patients: 10 with SMEI, 1 with generalized epilepsy with febrile seizures plus, and 1 with cryptogenic focal epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP128829.RA1piaO0Ty-IufySI2zqPQ_IEJTEFk1AWmog7zk1qUm_M130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP128829.RA1piaO0Ty-IufySI2zqPQ_IEJTEFk1AWmog7zk1qUm_M130_provenance.