Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP29033.RAzQQBB5xpMVf4ycinmbV_TlGk77Rs1KYZF7uLdwLGFxE130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP29033.RAzQQBB5xpMVf4ycinmbV_TlGk77Rs1KYZF7uLdwLGFxE130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP29033.RAzQQBB5xpMVf4ycinmbV_TlGk77Rs1KYZF7uLdwLGFxE130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP29033.RAzQQBB5xpMVf4ycinmbV_TlGk77Rs1KYZF7uLdwLGFxE130_provenance.
- NP29033.RAzQQBB5xpMVf4ycinmbV_TlGk77Rs1KYZF7uLdwLGFxE130_assertion description "[Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP29033.RAzQQBB5xpMVf4ycinmbV_TlGk77Rs1KYZF7uLdwLGFxE130_provenance.
- NP29033.RAzQQBB5xpMVf4ycinmbV_TlGk77Rs1KYZF7uLdwLGFxE130_assertion evidence source_evidence_curated NP29033.RAzQQBB5xpMVf4ycinmbV_TlGk77Rs1KYZF7uLdwLGFxE130_provenance.
- NP29033.RAzQQBB5xpMVf4ycinmbV_TlGk77Rs1KYZF7uLdwLGFxE130_assertion SIO_000772 1316765 NP29033.RAzQQBB5xpMVf4ycinmbV_TlGk77Rs1KYZF7uLdwLGFxE130_provenance.
- NP29033.RAzQQBB5xpMVf4ycinmbV_TlGk77Rs1KYZF7uLdwLGFxE130_assertion wasDerivedFrom ctd_human-20130708 NP29033.RAzQQBB5xpMVf4ycinmbV_TlGk77Rs1KYZF7uLdwLGFxE130_provenance.
- NP29033.RAzQQBB5xpMVf4ycinmbV_TlGk77Rs1KYZF7uLdwLGFxE130_assertion wasGeneratedBy ECO_0000218 NP29033.RAzQQBB5xpMVf4ycinmbV_TlGk77Rs1KYZF7uLdwLGFxE130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP29033.RAzQQBB5xpMVf4ycinmbV_TlGk77Rs1KYZF7uLdwLGFxE130_provenance.