@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:NP258454.RAlAPR2CNC6iRJPhlg_nbu2rsQ9K85ejxn_3QutoAH2Rc130_head { this: np:hasAssertion dgn-np:NP258454.RAlAPR2CNC6iRJPhlg_nbu2rsQ9K85ejxn_3QutoAH2Rc130_assertion; np:hasProvenance dgn-np:NP258454.RAlAPR2CNC6iRJPhlg_nbu2rsQ9K85ejxn_3QutoAH2Rc130_provenance; np:hasPublicationInfo dgn-np:NP258454.RAlAPR2CNC6iRJPhlg_nbu2rsQ9K85ejxn_3QutoAH2Rc130_publicationInfo; a np:Nanopublication . dgn-np:NP258454.RAlAPR2CNC6iRJPhlg_nbu2rsQ9K85ejxn_3QutoAH2Rc130_assertion a np:Assertion . dgn-np:NP258454.RAlAPR2CNC6iRJPhlg_nbu2rsQ9K85ejxn_3QutoAH2Rc130_provenance a np:Provenance . dgn-np:NP258454.RAlAPR2CNC6iRJPhlg_nbu2rsQ9K85ejxn_3QutoAH2Rc130_publicationInfo a np:PublicationInfo . } dgn-np:NP258454.RAlAPR2CNC6iRJPhlg_nbu2rsQ9K85ejxn_3QutoAH2Rc130_assertion { miriam-gene:1180 a ncit:C16612 . lld:C0700323 a ncit:C7057 . dgn-gda:DGNf8130d1cbacd7f82bb39a5372e3daadd sio:SIO_000628 miriam-gene:1180, lld:C0700323; a sio:SIO_001121 . } dgn-np:NP258454.RAlAPR2CNC6iRJPhlg_nbu2rsQ9K85ejxn_3QutoAH2Rc130_provenance { dgn-np:NP258454.RAlAPR2CNC6iRJPhlg_nbu2rsQ9K85ejxn_3QutoAH2Rc130_assertion dcterms:description "[Non-dystrophic myotonias (NDM) are characterised by muscle stiffness during voluntary movement owing to delayed skeletal muscle relaxation caused by mutations in the chloride (CLCN1) and sodium (SCN4A) skeletal muscle channel genes.]. 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:23417379; 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:NP258454.RAlAPR2CNC6iRJPhlg_nbu2rsQ9K85ejxn_3QutoAH2Rc130_publicationInfo { this: dcterms:created "2014-10-02T12:34:24+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" . }