dgn-np:NP708928.RAVxI-DPu2Ls2JYSbO0lxIcWZCYpO7eUPFV8fNp_HCmwI130_provenance {
  dgn-np:NP708928.RAVxI-DPu2Ls2JYSbO0lxIcWZCYpO7eUPFV8fNp_HCmwI130_assertion dcterms:description "[In a large family with historic data on seven generations and a clear phenotype, including myotonia at movement onset, with worsening by cold temperature, pregnancy, mental stress, and especially after rest after intense physical activity, but without weakness, the phenotype was linked with the muscle sodium channel gene (SCN4A) locus, in which a novel p.I141V mutation was found.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
    wi:evidence dgn-void:source_evidence_literature ;
    sio:SIO_000772 miriam-pubmed:19015483 ;
    prov:wasDerivedFrom dgn-void:befree-20140225 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^xsd:date .
  dgn-void:source_evidence_literature a eco:ECO_0000212 ;
    rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en ;
    rdfs:label "DisGeNET evidence - LITERATURE"@en .
}