Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP424353.RADivFmfbevoaDtDSDbAVCZxgSwwxSxKjbOjgl8SOizNQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP424353.RADivFmfbevoaDtDSDbAVCZxgSwwxSxKjbOjgl8SOizNQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP424353.RADivFmfbevoaDtDSDbAVCZxgSwwxSxKjbOjgl8SOizNQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP424353.RADivFmfbevoaDtDSDbAVCZxgSwwxSxKjbOjgl8SOizNQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP424353.RADivFmfbevoaDtDSDbAVCZxgSwwxSxKjbOjgl8SOizNQ130_provenance.
- NP424353.RADivFmfbevoaDtDSDbAVCZxgSwwxSxKjbOjgl8SOizNQ130_assertion wasGeneratedBy ECO_0000203 NP424353.RADivFmfbevoaDtDSDbAVCZxgSwwxSxKjbOjgl8SOizNQ130_provenance.
- NP424353.RADivFmfbevoaDtDSDbAVCZxgSwwxSxKjbOjgl8SOizNQ130_assertion wasDerivedFrom befree-2016 NP424353.RADivFmfbevoaDtDSDbAVCZxgSwwxSxKjbOjgl8SOizNQ130_provenance.
- NP424353.RADivFmfbevoaDtDSDbAVCZxgSwwxSxKjbOjgl8SOizNQ130_assertion SIO_000772 14672992 NP424353.RADivFmfbevoaDtDSDbAVCZxgSwwxSxKjbOjgl8SOizNQ130_provenance.
- NP424353.RADivFmfbevoaDtDSDbAVCZxgSwwxSxKjbOjgl8SOizNQ130_assertion evidence source_evidence_literature NP424353.RADivFmfbevoaDtDSDbAVCZxgSwwxSxKjbOjgl8SOizNQ130_provenance.
- NP424353.RADivFmfbevoaDtDSDbAVCZxgSwwxSxKjbOjgl8SOizNQ130_assertion description "[Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel alpha1 subunit (NaV1.1), are associated with at least two forms of epilepsy, generalized epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy of infancy (SMEI).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP424353.RADivFmfbevoaDtDSDbAVCZxgSwwxSxKjbOjgl8SOizNQ130_provenance.