Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1407573.RAAYds-zPp5KXCKYnTt0HV4sxa1tjY0tfMuXPmQmMiDf8130_assertion> ?p ?o ?g. }
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- NP1407573.RAAYds-zPp5KXCKYnTt0HV4sxa1tjY0tfMuXPmQmMiDf8130_assertion type Assertion NP1407573.RAAYds-zPp5KXCKYnTt0HV4sxa1tjY0tfMuXPmQmMiDf8130_head.
- NP1407573.RAAYds-zPp5KXCKYnTt0HV4sxa1tjY0tfMuXPmQmMiDf8130_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." NP1407573.RAAYds-zPp5KXCKYnTt0HV4sxa1tjY0tfMuXPmQmMiDf8130_provenance.
- NP1407573.RAAYds-zPp5KXCKYnTt0HV4sxa1tjY0tfMuXPmQmMiDf8130_assertion evidence source_evidence_literature NP1407573.RAAYds-zPp5KXCKYnTt0HV4sxa1tjY0tfMuXPmQmMiDf8130_provenance.
- NP1407573.RAAYds-zPp5KXCKYnTt0HV4sxa1tjY0tfMuXPmQmMiDf8130_assertion SIO_000772 9806543 NP1407573.RAAYds-zPp5KXCKYnTt0HV4sxa1tjY0tfMuXPmQmMiDf8130_provenance.
- NP1407573.RAAYds-zPp5KXCKYnTt0HV4sxa1tjY0tfMuXPmQmMiDf8130_assertion wasDerivedFrom befree-2016 NP1407573.RAAYds-zPp5KXCKYnTt0HV4sxa1tjY0tfMuXPmQmMiDf8130_provenance.
- NP1407573.RAAYds-zPp5KXCKYnTt0HV4sxa1tjY0tfMuXPmQmMiDf8130_assertion wasGeneratedBy ECO_0000203 NP1407573.RAAYds-zPp5KXCKYnTt0HV4sxa1tjY0tfMuXPmQmMiDf8130_provenance.