@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:NP372918.RA4CvQPFuxjXYOgrWsv59Bd3bLKsEDABk4YNXC4RM1nVc130_head { this: np:hasAssertion dgn-np:NP372918.RA4CvQPFuxjXYOgrWsv59Bd3bLKsEDABk4YNXC4RM1nVc130_assertion; np:hasProvenance dgn-np:NP372918.RA4CvQPFuxjXYOgrWsv59Bd3bLKsEDABk4YNXC4RM1nVc130_provenance; np:hasPublicationInfo dgn-np:NP372918.RA4CvQPFuxjXYOgrWsv59Bd3bLKsEDABk4YNXC4RM1nVc130_publicationInfo; a np:Nanopublication . dgn-np:NP372918.RA4CvQPFuxjXYOgrWsv59Bd3bLKsEDABk4YNXC4RM1nVc130_assertion a np:Assertion . dgn-np:NP372918.RA4CvQPFuxjXYOgrWsv59Bd3bLKsEDABk4YNXC4RM1nVc130_provenance a np:Provenance . dgn-np:NP372918.RA4CvQPFuxjXYOgrWsv59Bd3bLKsEDABk4YNXC4RM1nVc130_publicationInfo a np:PublicationInfo . } dgn-np:NP372918.RA4CvQPFuxjXYOgrWsv59Bd3bLKsEDABk4YNXC4RM1nVc130_assertion { miriam-gene:1123 a ncit:C16612 . lld:C0013261 a ncit:C7057 . dgn-gda:DGNd2ce72a0a7c2286b5707b30db7b0e59e sio:SIO_000628 miriam-gene:1123, lld:C0013261; a sio:SIO_001121 . } dgn-np:NP372918.RA4CvQPFuxjXYOgrWsv59Bd3bLKsEDABk4YNXC4RM1nVc130_provenance { dgn-np:NP372918.RA4CvQPFuxjXYOgrWsv59Bd3bLKsEDABk4YNXC4RM1nVc130_assertion dcterms:description "[Mutations in the gene CHN1 have been described in autosomal dominant Duane's retraction syndrome (DRS) and mutations have been shown to interfere with normal innervation of target eye muscles by oculomotor axons in chick embryos.]. 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:20535495; 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:NP372918.RA4CvQPFuxjXYOgrWsv59Bd3bLKsEDABk4YNXC4RM1nVc130_publicationInfo { this: dcterms:created "2014-10-02T12:35:38+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" . }