Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP924295.RAjGH2p9c-SgJ22W-VRFLbkdQFWvEOhTia6yX8AjuGE30130_assertion> ?p ?o ?g. }
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- NP924295.RAjGH2p9c-SgJ22W-VRFLbkdQFWvEOhTia6yX8AjuGE30130_assertion type Assertion NP924295.RAjGH2p9c-SgJ22W-VRFLbkdQFWvEOhTia6yX8AjuGE30130_head.
- 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.