Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP835535.RAvSxdfmEtSw7Uvq1fHMc8KBOCwqETHlGU1gDirCmVHQ0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP835535.RAvSxdfmEtSw7Uvq1fHMc8KBOCwqETHlGU1gDirCmVHQ0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP835535.RAvSxdfmEtSw7Uvq1fHMc8KBOCwqETHlGU1gDirCmVHQ0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP835535.RAvSxdfmEtSw7Uvq1fHMc8KBOCwqETHlGU1gDirCmVHQ0130_provenance.
- NP835535.RAvSxdfmEtSw7Uvq1fHMc8KBOCwqETHlGU1gDirCmVHQ0130_assertion description "[This study confirms that ARX is involved in the pathogenesis of cryptogenic early onset epileptic encephalopathy, such as OS, and suggests that the severity of the electroclinical picture is likely to not exclusively correlate with the extent of expansions of the polyalanine tracts, but rather with the functional effect of different pathogenetic mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP835535.RAvSxdfmEtSw7Uvq1fHMc8KBOCwqETHlGU1gDirCmVHQ0130_provenance.
- NP835535.RAvSxdfmEtSw7Uvq1fHMc8KBOCwqETHlGU1gDirCmVHQ0130_assertion evidence source_evidence_literature NP835535.RAvSxdfmEtSw7Uvq1fHMc8KBOCwqETHlGU1gDirCmVHQ0130_provenance.
- NP835535.RAvSxdfmEtSw7Uvq1fHMc8KBOCwqETHlGU1gDirCmVHQ0130_assertion SIO_000772 21108397 NP835535.RAvSxdfmEtSw7Uvq1fHMc8KBOCwqETHlGU1gDirCmVHQ0130_provenance.
- NP835535.RAvSxdfmEtSw7Uvq1fHMc8KBOCwqETHlGU1gDirCmVHQ0130_assertion wasDerivedFrom befree-20150227 NP835535.RAvSxdfmEtSw7Uvq1fHMc8KBOCwqETHlGU1gDirCmVHQ0130_provenance.
- NP835535.RAvSxdfmEtSw7Uvq1fHMc8KBOCwqETHlGU1gDirCmVHQ0130_assertion wasGeneratedBy ECO_0000203 NP835535.RAvSxdfmEtSw7Uvq1fHMc8KBOCwqETHlGU1gDirCmVHQ0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP835535.RAvSxdfmEtSw7Uvq1fHMc8KBOCwqETHlGU1gDirCmVHQ0130_provenance.