Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1431302.RAOd8uYfYryRZSJNM3YMG5U0evIaSO12cl3gtW0rxgDOw#assertion> ?p ?o ?g. }
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- assertion description "[Loss-of-function mutations in the gene (CSTB) encoding human cystatin B, a widely expressed cysteine protease inhibitor, are responsible for a severe neurological disorder known as Unverricht-Lundborg disease (EPM1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 9806543 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.