@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP201089.RAXFwWq5xppuQE6231lXdu7arvtRvzA1VXEsPUqveaXWE130_head { this: np:hasAssertion dgn-np:NP201089.RAXFwWq5xppuQE6231lXdu7arvtRvzA1VXEsPUqveaXWE130_assertion; np:hasProvenance dgn-np:NP201089.RAXFwWq5xppuQE6231lXdu7arvtRvzA1VXEsPUqveaXWE130_provenance; np:hasPublicationInfo dgn-np:NP201089.RAXFwWq5xppuQE6231lXdu7arvtRvzA1VXEsPUqveaXWE130_publicationInfo; a np:Nanopublication . dgn-np:NP201089.RAXFwWq5xppuQE6231lXdu7arvtRvzA1VXEsPUqveaXWE130_assertion a np:Assertion . dgn-np:NP201089.RAXFwWq5xppuQE6231lXdu7arvtRvzA1VXEsPUqveaXWE130_provenance a np:Provenance . dgn-np:NP201089.RAXFwWq5xppuQE6231lXdu7arvtRvzA1VXEsPUqveaXWE130_publicationInfo a np:PublicationInfo . } dgn-np:NP201089.RAXFwWq5xppuQE6231lXdu7arvtRvzA1VXEsPUqveaXWE130_assertion { miriam-gene:3785 a ncit:C16612 . lld:C0684219 a ncit:C7057 . dgn-gda:DGNe11360d2051204911b2556c400f57896 sio:SIO_000628 miriam-gene:3785, lld:C0684219; a sio:SIO_001121 . } dgn-np:NP201089.RAXFwWq5xppuQE6231lXdu7arvtRvzA1VXEsPUqveaXWE130_provenance { dgn-np:NP201089.RAXFwWq5xppuQE6231lXdu7arvtRvzA1VXEsPUqveaXWE130_assertion dcterms:description "[We propose that a difference in firing patterns between motoneurons and central neurons, combined with the drastically slowed voltage activation of the R207W mutant, explains why this particular KCNQ2 mutant causes myokymia in addition to BFNC.]. 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:11572947; 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 . } dgn-np:NP201089.RAXFwWq5xppuQE6231lXdu7arvtRvzA1VXEsPUqveaXWE130_publicationInfo { this: dcterms:created "2014-10-02T12:33:51+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }