Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1249441.RA-ajY5vfCGniuXfqrtWxfsBtc1nMCWsKrVjck-HTvUSc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1249441.RA-ajY5vfCGniuXfqrtWxfsBtc1nMCWsKrVjck-HTvUSc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1249441.RA-ajY5vfCGniuXfqrtWxfsBtc1nMCWsKrVjck-HTvUSc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1249441.RA-ajY5vfCGniuXfqrtWxfsBtc1nMCWsKrVjck-HTvUSc130_provenance.
- NP1249441.RA-ajY5vfCGniuXfqrtWxfsBtc1nMCWsKrVjck-HTvUSc130_assertion description "[Mutations in the KCNQ2 gene encoding for voltage-gated potassium channel subunits have been found in patients affected with early onset epilepsies with wide phenotypic heterogeneity, ranging from benign familial neonatal seizures (BFNS) to epileptic encephalopathy with cognitive impairment, drug resistance, and characteristic electroencephalography (EEG) and neuroradiologic features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1249441.RA-ajY5vfCGniuXfqrtWxfsBtc1nMCWsKrVjck-HTvUSc130_provenance.
- NP1249441.RA-ajY5vfCGniuXfqrtWxfsBtc1nMCWsKrVjck-HTvUSc130_assertion evidence source_evidence_literature NP1249441.RA-ajY5vfCGniuXfqrtWxfsBtc1nMCWsKrVjck-HTvUSc130_provenance.
- NP1249441.RA-ajY5vfCGniuXfqrtWxfsBtc1nMCWsKrVjck-HTvUSc130_assertion SIO_000772 25524373 NP1249441.RA-ajY5vfCGniuXfqrtWxfsBtc1nMCWsKrVjck-HTvUSc130_provenance.
- NP1249441.RA-ajY5vfCGniuXfqrtWxfsBtc1nMCWsKrVjck-HTvUSc130_assertion wasDerivedFrom befree-2016 NP1249441.RA-ajY5vfCGniuXfqrtWxfsBtc1nMCWsKrVjck-HTvUSc130_provenance.
- NP1249441.RA-ajY5vfCGniuXfqrtWxfsBtc1nMCWsKrVjck-HTvUSc130_assertion wasGeneratedBy ECO_0000203 NP1249441.RA-ajY5vfCGniuXfqrtWxfsBtc1nMCWsKrVjck-HTvUSc130_provenance.
- befree-2016 importedOn "2016-02-19" NP1249441.RA-ajY5vfCGniuXfqrtWxfsBtc1nMCWsKrVjck-HTvUSc130_provenance.