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- source_evidence_literature type ECO_0000212 NP475544.RAnX6_vv7-ilQM2Q7EULEblX8D5pLjE_wimJN5tHCI7QU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP475544.RAnX6_vv7-ilQM2Q7EULEblX8D5pLjE_wimJN5tHCI7QU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP475544.RAnX6_vv7-ilQM2Q7EULEblX8D5pLjE_wimJN5tHCI7QU130_provenance.
- NP475544.RAnX6_vv7-ilQM2Q7EULEblX8D5pLjE_wimJN5tHCI7QU130_assertion description "[We demonstrated that a paroxysmal extreme pain disorder (PEPD) mutation in the human peripheral neuronal sodium channel Nav1.7, a paramyotonia congenita (PMC) mutation in the human skeletal muscle sodium channel Nav1.4, and a long-QT3/SIDS mutation in the human cardiac sodium channel Nav1.5 all substantially increased the amplitude of resurgent sodium currents in an optimized adult rat-derived dorsal root ganglion neuronal expression system.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP475544.RAnX6_vv7-ilQM2Q7EULEblX8D5pLjE_wimJN5tHCI7QU130_provenance.
- NP475544.RAnX6_vv7-ilQM2Q7EULEblX8D5pLjE_wimJN5tHCI7QU130_assertion evidence source_evidence_literature NP475544.RAnX6_vv7-ilQM2Q7EULEblX8D5pLjE_wimJN5tHCI7QU130_provenance.
- NP475544.RAnX6_vv7-ilQM2Q7EULEblX8D5pLjE_wimJN5tHCI7QU130_assertion SIO_000772 20038812 NP475544.RAnX6_vv7-ilQM2Q7EULEblX8D5pLjE_wimJN5tHCI7QU130_provenance.
- NP475544.RAnX6_vv7-ilQM2Q7EULEblX8D5pLjE_wimJN5tHCI7QU130_assertion wasDerivedFrom befree-20150227 NP475544.RAnX6_vv7-ilQM2Q7EULEblX8D5pLjE_wimJN5tHCI7QU130_provenance.
- NP475544.RAnX6_vv7-ilQM2Q7EULEblX8D5pLjE_wimJN5tHCI7QU130_assertion wasGeneratedBy ECO_0000203 NP475544.RAnX6_vv7-ilQM2Q7EULEblX8D5pLjE_wimJN5tHCI7QU130_provenance.
- befree-20150227 importedOn "2015-02-27" NP475544.RAnX6_vv7-ilQM2Q7EULEblX8D5pLjE_wimJN5tHCI7QU130_provenance.