Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1005157.RAS9EKbFkcBzLJTEVRmI4N-6eDjOS8yDib4SCJ2SZxhsA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1005157.RAS9EKbFkcBzLJTEVRmI4N-6eDjOS8yDib4SCJ2SZxhsA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1005157.RAS9EKbFkcBzLJTEVRmI4N-6eDjOS8yDib4SCJ2SZxhsA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1005157.RAS9EKbFkcBzLJTEVRmI4N-6eDjOS8yDib4SCJ2SZxhsA130_provenance.
- NP1005157.RAS9EKbFkcBzLJTEVRmI4N-6eDjOS8yDib4SCJ2SZxhsA130_assertion description "[The human R482X CACNB4 mutation, responsible for a form of juvenile myoclonic epilepsy, prevents association with Ppp2r5 and nuclear targeting of the complex by altering Cacnb4 conformation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1005157.RAS9EKbFkcBzLJTEVRmI4N-6eDjOS8yDib4SCJ2SZxhsA130_provenance.
- NP1005157.RAS9EKbFkcBzLJTEVRmI4N-6eDjOS8yDib4SCJ2SZxhsA130_assertion evidence source_evidence_literature NP1005157.RAS9EKbFkcBzLJTEVRmI4N-6eDjOS8yDib4SCJ2SZxhsA130_provenance.
- NP1005157.RAS9EKbFkcBzLJTEVRmI4N-6eDjOS8yDib4SCJ2SZxhsA130_assertion SIO_000772 22892567 NP1005157.RAS9EKbFkcBzLJTEVRmI4N-6eDjOS8yDib4SCJ2SZxhsA130_provenance.
- NP1005157.RAS9EKbFkcBzLJTEVRmI4N-6eDjOS8yDib4SCJ2SZxhsA130_assertion wasDerivedFrom befree-2016 NP1005157.RAS9EKbFkcBzLJTEVRmI4N-6eDjOS8yDib4SCJ2SZxhsA130_provenance.
- NP1005157.RAS9EKbFkcBzLJTEVRmI4N-6eDjOS8yDib4SCJ2SZxhsA130_assertion wasGeneratedBy ECO_0000203 NP1005157.RAS9EKbFkcBzLJTEVRmI4N-6eDjOS8yDib4SCJ2SZxhsA130_provenance.
- befree-2016 importedOn "2016-02-19" NP1005157.RAS9EKbFkcBzLJTEVRmI4N-6eDjOS8yDib4SCJ2SZxhsA130_provenance.