Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1131875.RAfADzXLFVJUWZlgN-LRROMKKUAeFCLAsU4G6NjnChBCA#assertion> ?p ?o ?g. }
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- assertion description "[Lafora disease (LD) is the inherited progressive myoclonus epilepsy caused by mutations in either EPM2A gene, encoding the protein phosphatase laforin or the NHLRC1 gene, encoding the ubiquitin ligase malin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 21742036 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.