Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP829040.RAE9yWZjODfO66x7chBOuk8Hc51Q440WjPH_WcpCOB-gs130_assertion> ?p ?o ?g. }
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- NP829040.RAE9yWZjODfO66x7chBOuk8Hc51Q440WjPH_WcpCOB-gs130_assertion type Assertion NP829040.RAE9yWZjODfO66x7chBOuk8Hc51Q440WjPH_WcpCOB-gs130_head.
- NP829040.RAE9yWZjODfO66x7chBOuk8Hc51Q440WjPH_WcpCOB-gs130_assertion wasGeneratedBy ECO_0000203 NP829040.RAE9yWZjODfO66x7chBOuk8Hc51Q440WjPH_WcpCOB-gs130_provenance.
- NP829040.RAE9yWZjODfO66x7chBOuk8Hc51Q440WjPH_WcpCOB-gs130_assertion wasDerivedFrom befree-20140225 NP829040.RAE9yWZjODfO66x7chBOuk8Hc51Q440WjPH_WcpCOB-gs130_provenance.
- NP829040.RAE9yWZjODfO66x7chBOuk8Hc51Q440WjPH_WcpCOB-gs130_assertion SIO_000772 23297359 NP829040.RAE9yWZjODfO66x7chBOuk8Hc51Q440WjPH_WcpCOB-gs130_provenance.
- NP829040.RAE9yWZjODfO66x7chBOuk8Hc51Q440WjPH_WcpCOB-gs130_assertion evidence source_evidence_literature NP829040.RAE9yWZjODfO66x7chBOuk8Hc51Q440WjPH_WcpCOB-gs130_provenance.
- NP829040.RAE9yWZjODfO66x7chBOuk8Hc51Q440WjPH_WcpCOB-gs130_assertion description "[Mutations in CLN6 were recently identified in recessive Kufs disease presenting as progressive myoclonus epilepsy (Type A), whereas the molecular basis of cases presenting with dementia and motor features (Type B) is unknown.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP829040.RAE9yWZjODfO66x7chBOuk8Hc51Q440WjPH_WcpCOB-gs130_provenance.