Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP451367.RAcZ-Ws2E3UYtyMItUb_cKQ93oTDh0zr10R5VDe69vRXw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP451367.RAcZ-Ws2E3UYtyMItUb_cKQ93oTDh0zr10R5VDe69vRXw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP451367.RAcZ-Ws2E3UYtyMItUb_cKQ93oTDh0zr10R5VDe69vRXw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP451367.RAcZ-Ws2E3UYtyMItUb_cKQ93oTDh0zr10R5VDe69vRXw130_provenance.
- NP451367.RAcZ-Ws2E3UYtyMItUb_cKQ93oTDh0zr10R5VDe69vRXw130_assertion wasGeneratedBy ECO_0000203 NP451367.RAcZ-Ws2E3UYtyMItUb_cKQ93oTDh0zr10R5VDe69vRXw130_provenance.
- NP451367.RAcZ-Ws2E3UYtyMItUb_cKQ93oTDh0zr10R5VDe69vRXw130_assertion wasDerivedFrom befree-20140225 NP451367.RAcZ-Ws2E3UYtyMItUb_cKQ93oTDh0zr10R5VDe69vRXw130_provenance.
- NP451367.RAcZ-Ws2E3UYtyMItUb_cKQ93oTDh0zr10R5VDe69vRXw130_assertion SIO_000772 20538597 NP451367.RAcZ-Ws2E3UYtyMItUb_cKQ93oTDh0zr10R5VDe69vRXw130_provenance.
- NP451367.RAcZ-Ws2E3UYtyMItUb_cKQ93oTDh0zr10R5VDe69vRXw130_assertion evidence source_evidence_literature NP451367.RAcZ-Ws2E3UYtyMItUb_cKQ93oTDh0zr10R5VDe69vRXw130_provenance.
- NP451367.RAcZ-Ws2E3UYtyMItUb_cKQ93oTDh0zr10R5VDe69vRXw130_assertion description "[Approximately 90% of cases of Lafora disease, a fatal teenage-onset progressive myoclonus epilepsy, are caused by mutations in either the EPM2A or the EPM2B genes that encode, respectively, a glycogen phosphatase called laforin and an E3 ubiquitin ligase called malin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP451367.RAcZ-Ws2E3UYtyMItUb_cKQ93oTDh0zr10R5VDe69vRXw130_provenance.
- befree-20140225 importedOn "2014-02-25" NP451367.RAcZ-Ws2E3UYtyMItUb_cKQ93oTDh0zr10R5VDe69vRXw130_provenance.