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- source_evidence_literature type ECO_0000212 NP1003934.RACnOivQiS_8rkxtaXoImbbgizcVrMRB2dnCt0M2NHAv0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1003934.RACnOivQiS_8rkxtaXoImbbgizcVrMRB2dnCt0M2NHAv0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1003934.RACnOivQiS_8rkxtaXoImbbgizcVrMRB2dnCt0M2NHAv0130_provenance.
- NP1003934.RACnOivQiS_8rkxtaXoImbbgizcVrMRB2dnCt0M2NHAv0130_assertion description "[Direct sequencing of the coding region identified the PRRT2 mutation c.649dupC in 5/5 families with infantile convulsions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1003934.RACnOivQiS_8rkxtaXoImbbgizcVrMRB2dnCt0M2NHAv0130_provenance.
- NP1003934.RACnOivQiS_8rkxtaXoImbbgizcVrMRB2dnCt0M2NHAv0130_assertion evidence source_evidence_literature NP1003934.RACnOivQiS_8rkxtaXoImbbgizcVrMRB2dnCt0M2NHAv0130_provenance.
- NP1003934.RACnOivQiS_8rkxtaXoImbbgizcVrMRB2dnCt0M2NHAv0130_assertion SIO_000772 22877996 NP1003934.RACnOivQiS_8rkxtaXoImbbgizcVrMRB2dnCt0M2NHAv0130_provenance.
- NP1003934.RACnOivQiS_8rkxtaXoImbbgizcVrMRB2dnCt0M2NHAv0130_assertion wasDerivedFrom befree-2016 NP1003934.RACnOivQiS_8rkxtaXoImbbgizcVrMRB2dnCt0M2NHAv0130_provenance.
- NP1003934.RACnOivQiS_8rkxtaXoImbbgizcVrMRB2dnCt0M2NHAv0130_assertion wasGeneratedBy ECO_0000203 NP1003934.RACnOivQiS_8rkxtaXoImbbgizcVrMRB2dnCt0M2NHAv0130_provenance.
- befree-2016 importedOn "2016-02-19" NP1003934.RACnOivQiS_8rkxtaXoImbbgizcVrMRB2dnCt0M2NHAv0130_provenance.