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- source_evidence_literature type ECO_0000212 NP277667.RAvEhd9Xg3ZLJsKk3SlJs_DP3zJZ30-UGoh7sIBmbXhNM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP277667.RAvEhd9Xg3ZLJsKk3SlJs_DP3zJZ30-UGoh7sIBmbXhNM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP277667.RAvEhd9Xg3ZLJsKk3SlJs_DP3zJZ30-UGoh7sIBmbXhNM130_provenance.
- NP277667.RAvEhd9Xg3ZLJsKk3SlJs_DP3zJZ30-UGoh7sIBmbXhNM130_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." NP277667.RAvEhd9Xg3ZLJsKk3SlJs_DP3zJZ30-UGoh7sIBmbXhNM130_provenance.
- NP277667.RAvEhd9Xg3ZLJsKk3SlJs_DP3zJZ30-UGoh7sIBmbXhNM130_assertion evidence source_evidence_literature NP277667.RAvEhd9Xg3ZLJsKk3SlJs_DP3zJZ30-UGoh7sIBmbXhNM130_provenance.
- NP277667.RAvEhd9Xg3ZLJsKk3SlJs_DP3zJZ30-UGoh7sIBmbXhNM130_assertion SIO_000772 22892567 NP277667.RAvEhd9Xg3ZLJsKk3SlJs_DP3zJZ30-UGoh7sIBmbXhNM130_provenance.
- NP277667.RAvEhd9Xg3ZLJsKk3SlJs_DP3zJZ30-UGoh7sIBmbXhNM130_assertion wasDerivedFrom befree-20150227 NP277667.RAvEhd9Xg3ZLJsKk3SlJs_DP3zJZ30-UGoh7sIBmbXhNM130_provenance.
- NP277667.RAvEhd9Xg3ZLJsKk3SlJs_DP3zJZ30-UGoh7sIBmbXhNM130_assertion wasGeneratedBy ECO_0000203 NP277667.RAvEhd9Xg3ZLJsKk3SlJs_DP3zJZ30-UGoh7sIBmbXhNM130_provenance.
- befree-20150227 importedOn "2015-02-27" NP277667.RAvEhd9Xg3ZLJsKk3SlJs_DP3zJZ30-UGoh7sIBmbXhNM130_provenance.