@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:NP192432.RAySskzu0DXIpbDIYSTTG3hYbNVjNiV1Wb0OMwYGgHacA130_head { this: np:hasAssertion dgn-np:NP192432.RAySskzu0DXIpbDIYSTTG3hYbNVjNiV1Wb0OMwYGgHacA130_assertion; np:hasProvenance dgn-np:NP192432.RAySskzu0DXIpbDIYSTTG3hYbNVjNiV1Wb0OMwYGgHacA130_provenance; np:hasPublicationInfo dgn-np:NP192432.RAySskzu0DXIpbDIYSTTG3hYbNVjNiV1Wb0OMwYGgHacA130_publicationInfo; a np:Nanopublication . dgn-np:NP192432.RAySskzu0DXIpbDIYSTTG3hYbNVjNiV1Wb0OMwYGgHacA130_assertion a np:Assertion . dgn-np:NP192432.RAySskzu0DXIpbDIYSTTG3hYbNVjNiV1Wb0OMwYGgHacA130_provenance a np:Provenance . dgn-np:NP192432.RAySskzu0DXIpbDIYSTTG3hYbNVjNiV1Wb0OMwYGgHacA130_publicationInfo a np:PublicationInfo . } dgn-np:NP192432.RAySskzu0DXIpbDIYSTTG3hYbNVjNiV1Wb0OMwYGgHacA130_assertion { miriam-gene:1180 a ncit:C16612 . lld:C2936781 a ncit:C7057 . dgn-gda:DGN160b7bb30490755ab55406aa61df59a2 sio:SIO_000628 miriam-gene:1180, lld:C2936781; a sio:SIO_001121 . } dgn-np:NP192432.RAySskzu0DXIpbDIYSTTG3hYbNVjNiV1Wb0OMwYGgHacA130_provenance { dgn-np:NP192432.RAySskzu0DXIpbDIYSTTG3hYbNVjNiV1Wb0OMwYGgHacA130_assertion dcterms:description "[Mutations in the gene encoding this chloride channel (CLCN1) are responsible for both human purely myotonic disorders, autosomal recessive generalized myotonia (Becker's disease, GM) and autosomal dominant myotonia congenita (Thomsen's disease, MC).]. 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:7951242; 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:NP192432.RAySskzu0DXIpbDIYSTTG3hYbNVjNiV1Wb0OMwYGgHacA130_publicationInfo { this: dcterms:created "2014-10-02T12:33:45+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" . }