Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP924295.RAjGH2p9c-SgJ22W-VRFLbkdQFWvEOhTia6yX8AjuGE30130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP924295.RAjGH2p9c-SgJ22W-VRFLbkdQFWvEOhTia6yX8AjuGE30130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP924295.RAjGH2p9c-SgJ22W-VRFLbkdQFWvEOhTia6yX8AjuGE30130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP924295.RAjGH2p9c-SgJ22W-VRFLbkdQFWvEOhTia6yX8AjuGE30130_provenance.
- NP924295.RAjGH2p9c-SgJ22W-VRFLbkdQFWvEOhTia6yX8AjuGE30130_assertion description "[Screening all exons of CPA6 in unrelated patients with partial epilepsy (n = 195) and FS (n = 145) revealed a new heterozygous missense mutation c.799G>A (p.Gly267Arg) in three TLE patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP924295.RAjGH2p9c-SgJ22W-VRFLbkdQFWvEOhTia6yX8AjuGE30130_provenance.
- NP924295.RAjGH2p9c-SgJ22W-VRFLbkdQFWvEOhTia6yX8AjuGE30130_assertion evidence source_evidence_literature NP924295.RAjGH2p9c-SgJ22W-VRFLbkdQFWvEOhTia6yX8AjuGE30130_provenance.
- NP924295.RAjGH2p9c-SgJ22W-VRFLbkdQFWvEOhTia6yX8AjuGE30130_assertion SIO_000772 21922598 NP924295.RAjGH2p9c-SgJ22W-VRFLbkdQFWvEOhTia6yX8AjuGE30130_provenance.
- NP924295.RAjGH2p9c-SgJ22W-VRFLbkdQFWvEOhTia6yX8AjuGE30130_assertion wasDerivedFrom befree-2016 NP924295.RAjGH2p9c-SgJ22W-VRFLbkdQFWvEOhTia6yX8AjuGE30130_provenance.
- NP924295.RAjGH2p9c-SgJ22W-VRFLbkdQFWvEOhTia6yX8AjuGE30130_assertion wasGeneratedBy ECO_0000203 NP924295.RAjGH2p9c-SgJ22W-VRFLbkdQFWvEOhTia6yX8AjuGE30130_provenance.
- befree-2016 importedOn "2016-02-19" NP924295.RAjGH2p9c-SgJ22W-VRFLbkdQFWvEOhTia6yX8AjuGE30130_provenance.