Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP451367.RAcZ-Ws2E3UYtyMItUb_cKQ93oTDh0zr10R5VDe69vRXw130_assertion> ?p ?o ?g. }
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- NP451367.RAcZ-Ws2E3UYtyMItUb_cKQ93oTDh0zr10R5VDe69vRXw130_assertion type Assertion NP451367.RAcZ-Ws2E3UYtyMItUb_cKQ93oTDh0zr10R5VDe69vRXw130_head.
- 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.