Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8987.RAkEtnyNCe_IgtKbtkw0ycTjMvhXUi4tnrDfeC2aUxFGc130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP8987.RAkEtnyNCe_IgtKbtkw0ycTjMvhXUi4tnrDfeC2aUxFGc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8987.RAkEtnyNCe_IgtKbtkw0ycTjMvhXUi4tnrDfeC2aUxFGc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8987.RAkEtnyNCe_IgtKbtkw0ycTjMvhXUi4tnrDfeC2aUxFGc130_provenance.
- NP8987.RAkEtnyNCe_IgtKbtkw0ycTjMvhXUi4tnrDfeC2aUxFGc130_assertion description "[Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP8987.RAkEtnyNCe_IgtKbtkw0ycTjMvhXUi4tnrDfeC2aUxFGc130_provenance.
- NP8987.RAkEtnyNCe_IgtKbtkw0ycTjMvhXUi4tnrDfeC2aUxFGc130_assertion evidence source_evidence_curated NP8987.RAkEtnyNCe_IgtKbtkw0ycTjMvhXUi4tnrDfeC2aUxFGc130_provenance.
- NP8987.RAkEtnyNCe_IgtKbtkw0ycTjMvhXUi4tnrDfeC2aUxFGc130_assertion SIO_000772 8580427 NP8987.RAkEtnyNCe_IgtKbtkw0ycTjMvhXUi4tnrDfeC2aUxFGc130_provenance.
- NP8987.RAkEtnyNCe_IgtKbtkw0ycTjMvhXUi4tnrDfeC2aUxFGc130_assertion wasDerivedFrom uniprot-2016 NP8987.RAkEtnyNCe_IgtKbtkw0ycTjMvhXUi4tnrDfeC2aUxFGc130_provenance.
- NP8987.RAkEtnyNCe_IgtKbtkw0ycTjMvhXUi4tnrDfeC2aUxFGc130_assertion wasGeneratedBy ECO_0000218 NP8987.RAkEtnyNCe_IgtKbtkw0ycTjMvhXUi4tnrDfeC2aUxFGc130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP8987.RAkEtnyNCe_IgtKbtkw0ycTjMvhXUi4tnrDfeC2aUxFGc130_provenance.