@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:NP1277641.RApGtvCOk-Y2X_sUqo6zwW8OSmwj_3t5kgAIYjhfBJewI130_head { this: np:hasAssertion dgn-np:NP1277641.RApGtvCOk-Y2X_sUqo6zwW8OSmwj_3t5kgAIYjhfBJewI130_assertion; np:hasProvenance dgn-np:NP1277641.RApGtvCOk-Y2X_sUqo6zwW8OSmwj_3t5kgAIYjhfBJewI130_provenance; np:hasPublicationInfo dgn-np:NP1277641.RApGtvCOk-Y2X_sUqo6zwW8OSmwj_3t5kgAIYjhfBJewI130_publicationInfo; a np:Nanopublication . dgn-np:NP1277641.RApGtvCOk-Y2X_sUqo6zwW8OSmwj_3t5kgAIYjhfBJewI130_assertion a np:Assertion . dgn-np:NP1277641.RApGtvCOk-Y2X_sUqo6zwW8OSmwj_3t5kgAIYjhfBJewI130_provenance a np:Provenance . dgn-np:NP1277641.RApGtvCOk-Y2X_sUqo6zwW8OSmwj_3t5kgAIYjhfBJewI130_publicationInfo a np:PublicationInfo . } dgn-np:NP1277641.RApGtvCOk-Y2X_sUqo6zwW8OSmwj_3t5kgAIYjhfBJewI130_assertion { miriam-gene:79583 a ncit:C16612 . lld:C0010709 a ncit:C7057 . dgn-gda:DGN353c1c1183c47c88461f3bc3209a533e sio:SIO_000628 miriam-gene:79583, lld:C0010709; a sio:SIO_001121 . } dgn-np:NP1277641.RApGtvCOk-Y2X_sUqo6zwW8OSmwj_3t5kgAIYjhfBJewI130_provenance { dgn-np:NP1277641.RApGtvCOk-Y2X_sUqo6zwW8OSmwj_3t5kgAIYjhfBJewI130_assertion dcterms:description "[Consistent with a role in transition zone function, mutation of mouse Tmem231 disrupts the localization of proteins including Arl13b and Inpp5e to cilia, resulting in phenotypes characteristic of MKS such as polydactyly and kidney cysts.]. 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:25869670; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1277641.RApGtvCOk-Y2X_sUqo6zwW8OSmwj_3t5kgAIYjhfBJewI130_publicationInfo { this: dcterms:created "2016-05-13T12:51:25+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }