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- source_evidence_literature type ECO_0000212 NP352808.RA9zLz3Yk0IWWStX8WNjM-f48gSq_C0wRViK3jHWcD8UM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP352808.RA9zLz3Yk0IWWStX8WNjM-f48gSq_C0wRViK3jHWcD8UM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP352808.RA9zLz3Yk0IWWStX8WNjM-f48gSq_C0wRViK3jHWcD8UM130_provenance.
- NP352808.RA9zLz3Yk0IWWStX8WNjM-f48gSq_C0wRViK3jHWcD8UM130_assertion wasGeneratedBy ECO_0000203 NP352808.RA9zLz3Yk0IWWStX8WNjM-f48gSq_C0wRViK3jHWcD8UM130_provenance.
- NP352808.RA9zLz3Yk0IWWStX8WNjM-f48gSq_C0wRViK3jHWcD8UM130_assertion wasDerivedFrom befree-20140225 NP352808.RA9zLz3Yk0IWWStX8WNjM-f48gSq_C0wRViK3jHWcD8UM130_provenance.
- NP352808.RA9zLz3Yk0IWWStX8WNjM-f48gSq_C0wRViK3jHWcD8UM130_assertion SIO_000772 21094958 NP352808.RA9zLz3Yk0IWWStX8WNjM-f48gSq_C0wRViK3jHWcD8UM130_provenance.
- NP352808.RA9zLz3Yk0IWWStX8WNjM-f48gSq_C0wRViK3jHWcD8UM130_assertion evidence source_evidence_literature NP352808.RA9zLz3Yk0IWWStX8WNjM-f48gSq_C0wRViK3jHWcD8UM130_provenance.
- NP352808.RA9zLz3Yk0IWWStX8WNjM-f48gSq_C0wRViK3jHWcD8UM130_assertion description "[Gain-of-function mutations in the SCN9A gene (encoding to NaV1.7 voltage-gated sodium channel) cause two rare paroxysmal pain disorders: inherited erythromelalgia (IEM) and paroxysmal extreme pain disorder (PEDP).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP352808.RA9zLz3Yk0IWWStX8WNjM-f48gSq_C0wRViK3jHWcD8UM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP352808.RA9zLz3Yk0IWWStX8WNjM-f48gSq_C0wRViK3jHWcD8UM130_provenance.