@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:NP287233.RAKrZnB9D6HritoIktF85lViep4VWY2BKNyOa9MSUEetE130_head { this: np:hasAssertion dgn-np:NP287233.RAKrZnB9D6HritoIktF85lViep4VWY2BKNyOa9MSUEetE130_assertion; np:hasProvenance dgn-np:NP287233.RAKrZnB9D6HritoIktF85lViep4VWY2BKNyOa9MSUEetE130_provenance; np:hasPublicationInfo dgn-np:NP287233.RAKrZnB9D6HritoIktF85lViep4VWY2BKNyOa9MSUEetE130_publicationInfo; a np:Nanopublication . dgn-np:NP287233.RAKrZnB9D6HritoIktF85lViep4VWY2BKNyOa9MSUEetE130_assertion a np:Assertion . dgn-np:NP287233.RAKrZnB9D6HritoIktF85lViep4VWY2BKNyOa9MSUEetE130_provenance a np:Provenance . dgn-np:NP287233.RAKrZnB9D6HritoIktF85lViep4VWY2BKNyOa9MSUEetE130_publicationInfo a np:PublicationInfo . } dgn-np:NP287233.RAKrZnB9D6HritoIktF85lViep4VWY2BKNyOa9MSUEetE130_assertion { miriam-gene:57010 a ncit:C16612 . lld:C0339535 a ncit:C7057 . dgn-gda:DGN4f9b5471827e24d4dc9aaa72e7179dd7 sio:SIO_000628 miriam-gene:57010, lld:C0339535; a sio:SIO_001121 . } dgn-np:NP287233.RAKrZnB9D6HritoIktF85lViep4VWY2BKNyOa9MSUEetE130_provenance { dgn-np:NP287233.RAKrZnB9D6HritoIktF85lViep4VWY2BKNyOa9MSUEetE130_assertion dcterms:description "[Calcium binding protein 4 (CABP4), specifically located in photoreceptor synaptic terminals, has been associated with congenital stationary night blindness based on this clinical diagnosis being made for three individuals from two Swiss families with CABP4 mutations; however, the few reported cases limit phenotype-genotype correlation.]. 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:23099293; 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:NP287233.RAKrZnB9D6HritoIktF85lViep4VWY2BKNyOa9MSUEetE130_publicationInfo { this: dcterms:created "2014-10-02T12:34:43+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" . }