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- source_evidence_literature type ECO_0000212 NP783991.RA2Gi_anT3oVF_FypbdZc_RxExdckgAmMFC3fq6sa0U3U130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP783991.RA2Gi_anT3oVF_FypbdZc_RxExdckgAmMFC3fq6sa0U3U130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP783991.RA2Gi_anT3oVF_FypbdZc_RxExdckgAmMFC3fq6sa0U3U130_provenance.
- NP783991.RA2Gi_anT3oVF_FypbdZc_RxExdckgAmMFC3fq6sa0U3U130_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." NP783991.RA2Gi_anT3oVF_FypbdZc_RxExdckgAmMFC3fq6sa0U3U130_provenance.
- NP783991.RA2Gi_anT3oVF_FypbdZc_RxExdckgAmMFC3fq6sa0U3U130_assertion evidence source_evidence_literature NP783991.RA2Gi_anT3oVF_FypbdZc_RxExdckgAmMFC3fq6sa0U3U130_provenance.
- NP783991.RA2Gi_anT3oVF_FypbdZc_RxExdckgAmMFC3fq6sa0U3U130_assertion SIO_000772 20038812 NP783991.RA2Gi_anT3oVF_FypbdZc_RxExdckgAmMFC3fq6sa0U3U130_provenance.
- NP783991.RA2Gi_anT3oVF_FypbdZc_RxExdckgAmMFC3fq6sa0U3U130_assertion wasDerivedFrom befree-2016 NP783991.RA2Gi_anT3oVF_FypbdZc_RxExdckgAmMFC3fq6sa0U3U130_provenance.
- NP783991.RA2Gi_anT3oVF_FypbdZc_RxExdckgAmMFC3fq6sa0U3U130_assertion wasGeneratedBy ECO_0000203 NP783991.RA2Gi_anT3oVF_FypbdZc_RxExdckgAmMFC3fq6sa0U3U130_provenance.
- befree-2016 importedOn "2016-02-19" NP783991.RA2Gi_anT3oVF_FypbdZc_RxExdckgAmMFC3fq6sa0U3U130_provenance.