Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP908387.RAbJnbGd6jKVlISF7KmhVHROrPokODhEEVq0QtvkAkU08130_assertion> ?p ?o ?g. }
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- NP908387.RAbJnbGd6jKVlISF7KmhVHROrPokODhEEVq0QtvkAkU08130_assertion type Assertion NP908387.RAbJnbGd6jKVlISF7KmhVHROrPokODhEEVq0QtvkAkU08130_head.
- NP908387.RAbJnbGd6jKVlISF7KmhVHROrPokODhEEVq0QtvkAkU08130_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." NP908387.RAbJnbGd6jKVlISF7KmhVHROrPokODhEEVq0QtvkAkU08130_provenance.
- NP908387.RAbJnbGd6jKVlISF7KmhVHROrPokODhEEVq0QtvkAkU08130_assertion evidence source_evidence_literature NP908387.RAbJnbGd6jKVlISF7KmhVHROrPokODhEEVq0QtvkAkU08130_provenance.
- NP908387.RAbJnbGd6jKVlISF7KmhVHROrPokODhEEVq0QtvkAkU08130_assertion SIO_000772 21742036 NP908387.RAbJnbGd6jKVlISF7KmhVHROrPokODhEEVq0QtvkAkU08130_provenance.
- NP908387.RAbJnbGd6jKVlISF7KmhVHROrPokODhEEVq0QtvkAkU08130_assertion wasDerivedFrom befree-2016 NP908387.RAbJnbGd6jKVlISF7KmhVHROrPokODhEEVq0QtvkAkU08130_provenance.
- NP908387.RAbJnbGd6jKVlISF7KmhVHROrPokODhEEVq0QtvkAkU08130_assertion wasGeneratedBy ECO_0000203 NP908387.RAbJnbGd6jKVlISF7KmhVHROrPokODhEEVq0QtvkAkU08130_provenance.