Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP337246.RAp-1dHZej5gzV4gBilvPER2zcr4DgYCIlv8YFcdGSe2s130_assertion> ?p ?o ?g. }
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- NP337246.RAp-1dHZej5gzV4gBilvPER2zcr4DgYCIlv8YFcdGSe2s130_assertion type Assertion NP337246.RAp-1dHZej5gzV4gBilvPER2zcr4DgYCIlv8YFcdGSe2s130_head.
- NP337246.RAp-1dHZej5gzV4gBilvPER2zcr4DgYCIlv8YFcdGSe2s130_assertion description "[Mutations in the gene encoding cystatin B (CSTB), a cysteine protease inhibitor, are responsible for the primary defect in Unverricht-Lundborg disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP337246.RAp-1dHZej5gzV4gBilvPER2zcr4DgYCIlv8YFcdGSe2s130_provenance.
- NP337246.RAp-1dHZej5gzV4gBilvPER2zcr4DgYCIlv8YFcdGSe2s130_assertion evidence source_evidence_literature NP337246.RAp-1dHZej5gzV4gBilvPER2zcr4DgYCIlv8YFcdGSe2s130_provenance.
- NP337246.RAp-1dHZej5gzV4gBilvPER2zcr4DgYCIlv8YFcdGSe2s130_assertion SIO_000772 12853462 NP337246.RAp-1dHZej5gzV4gBilvPER2zcr4DgYCIlv8YFcdGSe2s130_provenance.
- NP337246.RAp-1dHZej5gzV4gBilvPER2zcr4DgYCIlv8YFcdGSe2s130_assertion wasDerivedFrom befree-20150227 NP337246.RAp-1dHZej5gzV4gBilvPER2zcr4DgYCIlv8YFcdGSe2s130_provenance.
- NP337246.RAp-1dHZej5gzV4gBilvPER2zcr4DgYCIlv8YFcdGSe2s130_assertion wasGeneratedBy ECO_0000203 NP337246.RAp-1dHZej5gzV4gBilvPER2zcr4DgYCIlv8YFcdGSe2s130_provenance.