@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:NP985014.RAfXfDIWA8SUlWeHmsNQ2T3Mz3-MmytwxC1VuTqPh-yDE130_head { this: np:hasAssertion dgn-np:NP985014.RAfXfDIWA8SUlWeHmsNQ2T3Mz3-MmytwxC1VuTqPh-yDE130_assertion; np:hasProvenance dgn-np:NP985014.RAfXfDIWA8SUlWeHmsNQ2T3Mz3-MmytwxC1VuTqPh-yDE130_provenance; np:hasPublicationInfo dgn-np:NP985014.RAfXfDIWA8SUlWeHmsNQ2T3Mz3-MmytwxC1VuTqPh-yDE130_publicationInfo; a np:Nanopublication . dgn-np:NP985014.RAfXfDIWA8SUlWeHmsNQ2T3Mz3-MmytwxC1VuTqPh-yDE130_assertion a np:Assertion . dgn-np:NP985014.RAfXfDIWA8SUlWeHmsNQ2T3Mz3-MmytwxC1VuTqPh-yDE130_provenance a np:Provenance . dgn-np:NP985014.RAfXfDIWA8SUlWeHmsNQ2T3Mz3-MmytwxC1VuTqPh-yDE130_publicationInfo a np:PublicationInfo . } dgn-np:NP985014.RAfXfDIWA8SUlWeHmsNQ2T3Mz3-MmytwxC1VuTqPh-yDE130_assertion { miriam-gene:8626 a ncit:C16612 . lld:C2699510 a ncit:C7057 . dgn-gda:DGN9ebeced80db8fc111f9f1cde06941f96 sio:SIO_000628 miriam-gene:8626, lld:C2699510; a sio:SIO_001121 . } dgn-np:NP985014.RAfXfDIWA8SUlWeHmsNQ2T3Mz3-MmytwxC1VuTqPh-yDE130_provenance { dgn-np:NP985014.RAfXfDIWA8SUlWeHmsNQ2T3Mz3-MmytwxC1VuTqPh-yDE130_assertion dcterms:description "[These patients and others reported as FATCO seem to belong to the phenotype fibular aplasia with ectrodactyly. Genetic screening for CNVs and mutations in the TP63 and WNT10B genes did not show any genetic abnormalities.]. 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:22628253; 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:NP985014.RAfXfDIWA8SUlWeHmsNQ2T3Mz3-MmytwxC1VuTqPh-yDE130_publicationInfo { this: dcterms:created "2016-05-13T12:49:11+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" . }