Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP407682.RAcIfndyeUI7zl2degJJt9L9WUW3lWlxro07E2rw-lmoo130_assertion> ?p ?o ?g. }
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- NP407682.RAcIfndyeUI7zl2degJJt9L9WUW3lWlxro07E2rw-lmoo130_assertion type Assertion NP407682.RAcIfndyeUI7zl2degJJt9L9WUW3lWlxro07E2rw-lmoo130_head.
- NP407682.RAcIfndyeUI7zl2degJJt9L9WUW3lWlxro07E2rw-lmoo130_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." NP407682.RAcIfndyeUI7zl2degJJt9L9WUW3lWlxro07E2rw-lmoo130_provenance.
- NP407682.RAcIfndyeUI7zl2degJJt9L9WUW3lWlxro07E2rw-lmoo130_assertion evidence source_evidence_literature NP407682.RAcIfndyeUI7zl2degJJt9L9WUW3lWlxro07E2rw-lmoo130_provenance.
- NP407682.RAcIfndyeUI7zl2degJJt9L9WUW3lWlxro07E2rw-lmoo130_assertion SIO_000772 21742036 NP407682.RAcIfndyeUI7zl2degJJt9L9WUW3lWlxro07E2rw-lmoo130_provenance.
- NP407682.RAcIfndyeUI7zl2degJJt9L9WUW3lWlxro07E2rw-lmoo130_assertion wasDerivedFrom befree-20140225 NP407682.RAcIfndyeUI7zl2degJJt9L9WUW3lWlxro07E2rw-lmoo130_provenance.
- NP407682.RAcIfndyeUI7zl2degJJt9L9WUW3lWlxro07E2rw-lmoo130_assertion wasGeneratedBy ECO_0000203 NP407682.RAcIfndyeUI7zl2degJJt9L9WUW3lWlxro07E2rw-lmoo130_provenance.