Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP532746.RANBo8Kj_WCsoyhG87ZIEslvDehpxCDJJpGV1F7_ehDmk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP532746.RANBo8Kj_WCsoyhG87ZIEslvDehpxCDJJpGV1F7_ehDmk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP532746.RANBo8Kj_WCsoyhG87ZIEslvDehpxCDJJpGV1F7_ehDmk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP532746.RANBo8Kj_WCsoyhG87ZIEslvDehpxCDJJpGV1F7_ehDmk130_provenance.
- NP532746.RANBo8Kj_WCsoyhG87ZIEslvDehpxCDJJpGV1F7_ehDmk130_assertion description "[Purpose: PRRT2 mutations were recently identified in benign familial infantile epilepsy (BFIE) and infantile convulsions with paroxysmal choreoathetosis (ICCA) but no abnormalities have so far been identified in their phenotypically similar seizure disorder of benign convulsions with mild gastroenteritis (CwG), while mutations in KCNQ2 and KCNQ3 have been recognized in benign familial neonatal epilepsy (BFNE).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP532746.RANBo8Kj_WCsoyhG87ZIEslvDehpxCDJJpGV1F7_ehDmk130_provenance.
- NP532746.RANBo8Kj_WCsoyhG87ZIEslvDehpxCDJJpGV1F7_ehDmk130_assertion evidence source_evidence_literature NP532746.RANBo8Kj_WCsoyhG87ZIEslvDehpxCDJJpGV1F7_ehDmk130_provenance.
- NP532746.RANBo8Kj_WCsoyhG87ZIEslvDehpxCDJJpGV1F7_ehDmk130_assertion SIO_000772 23073245 NP532746.RANBo8Kj_WCsoyhG87ZIEslvDehpxCDJJpGV1F7_ehDmk130_provenance.
- NP532746.RANBo8Kj_WCsoyhG87ZIEslvDehpxCDJJpGV1F7_ehDmk130_assertion wasDerivedFrom befree-20140225 NP532746.RANBo8Kj_WCsoyhG87ZIEslvDehpxCDJJpGV1F7_ehDmk130_provenance.
- NP532746.RANBo8Kj_WCsoyhG87ZIEslvDehpxCDJJpGV1F7_ehDmk130_assertion wasGeneratedBy ECO_0000203 NP532746.RANBo8Kj_WCsoyhG87ZIEslvDehpxCDJJpGV1F7_ehDmk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP532746.RANBo8Kj_WCsoyhG87ZIEslvDehpxCDJJpGV1F7_ehDmk130_provenance.