Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP458021.RAlVZzCV-OGidV5JnqA3NNuZj7FOBp7FqiwA1Mo_PV-hc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP458021.RAlVZzCV-OGidV5JnqA3NNuZj7FOBp7FqiwA1Mo_PV-hc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP458021.RAlVZzCV-OGidV5JnqA3NNuZj7FOBp7FqiwA1Mo_PV-hc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP458021.RAlVZzCV-OGidV5JnqA3NNuZj7FOBp7FqiwA1Mo_PV-hc130_provenance.
- NP458021.RAlVZzCV-OGidV5JnqA3NNuZj7FOBp7FqiwA1Mo_PV-hc130_assertion description "[Mutations in the SCN1A gene are found in up to 80% of individuals with severe myoclonic epilepsy of infancy (SMEI), and mutations in KCNQ2 and KCNQ3 were identified in benign familial neonatal convulsions (BFNC) as well as in single families with Rolandic epilepsy (RE) and idiopathic generalized epilepsies (IGE).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP458021.RAlVZzCV-OGidV5JnqA3NNuZj7FOBp7FqiwA1Mo_PV-hc130_provenance.
- NP458021.RAlVZzCV-OGidV5JnqA3NNuZj7FOBp7FqiwA1Mo_PV-hc130_assertion evidence source_evidence_literature NP458021.RAlVZzCV-OGidV5JnqA3NNuZj7FOBp7FqiwA1Mo_PV-hc130_provenance.
- NP458021.RAlVZzCV-OGidV5JnqA3NNuZj7FOBp7FqiwA1Mo_PV-hc130_assertion SIO_000772 19464834 NP458021.RAlVZzCV-OGidV5JnqA3NNuZj7FOBp7FqiwA1Mo_PV-hc130_provenance.
- NP458021.RAlVZzCV-OGidV5JnqA3NNuZj7FOBp7FqiwA1Mo_PV-hc130_assertion wasDerivedFrom befree-20140225 NP458021.RAlVZzCV-OGidV5JnqA3NNuZj7FOBp7FqiwA1Mo_PV-hc130_provenance.
- NP458021.RAlVZzCV-OGidV5JnqA3NNuZj7FOBp7FqiwA1Mo_PV-hc130_assertion wasGeneratedBy ECO_0000203 NP458021.RAlVZzCV-OGidV5JnqA3NNuZj7FOBp7FqiwA1Mo_PV-hc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP458021.RAlVZzCV-OGidV5JnqA3NNuZj7FOBp7FqiwA1Mo_PV-hc130_provenance.