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- source_evidence_literature type ECO_0000212 NP670958.RAhu4A7DPhy_LbyzHoKnosUra-IF9LPAP3HpEsAfw_nCo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP670958.RAhu4A7DPhy_LbyzHoKnosUra-IF9LPAP3HpEsAfw_nCo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP670958.RAhu4A7DPhy_LbyzHoKnosUra-IF9LPAP3HpEsAfw_nCo130_provenance.
- NP670958.RAhu4A7DPhy_LbyzHoKnosUra-IF9LPAP3HpEsAfw_nCo130_assertion description "[Mutations in SCN2A, the gene encoding the brain voltage-gated sodium channel alpha-subunit Na(V)1.2, are associated with inherited epilepsies including benign familial neonatal-infantile seizures (BFNIS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP670958.RAhu4A7DPhy_LbyzHoKnosUra-IF9LPAP3HpEsAfw_nCo130_provenance.
- NP670958.RAhu4A7DPhy_LbyzHoKnosUra-IF9LPAP3HpEsAfw_nCo130_assertion evidence source_evidence_literature NP670958.RAhu4A7DPhy_LbyzHoKnosUra-IF9LPAP3HpEsAfw_nCo130_provenance.
- NP670958.RAhu4A7DPhy_LbyzHoKnosUra-IF9LPAP3HpEsAfw_nCo130_assertion SIO_000772 18479388 NP670958.RAhu4A7DPhy_LbyzHoKnosUra-IF9LPAP3HpEsAfw_nCo130_provenance.
- NP670958.RAhu4A7DPhy_LbyzHoKnosUra-IF9LPAP3HpEsAfw_nCo130_assertion wasDerivedFrom befree-2016 NP670958.RAhu4A7DPhy_LbyzHoKnosUra-IF9LPAP3HpEsAfw_nCo130_provenance.
- NP670958.RAhu4A7DPhy_LbyzHoKnosUra-IF9LPAP3HpEsAfw_nCo130_assertion wasGeneratedBy ECO_0000203 NP670958.RAhu4A7DPhy_LbyzHoKnosUra-IF9LPAP3HpEsAfw_nCo130_provenance.
- befree-2016 importedOn "2016-02-19" NP670958.RAhu4A7DPhy_LbyzHoKnosUra-IF9LPAP3HpEsAfw_nCo130_provenance.