@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:NP875416.RAB1Q8bMpVtxRrG-6iyr-XHYAlhTgbNL6yaTeoehLa7II130_head { this: np:hasAssertion dgn-np:NP875416.RAB1Q8bMpVtxRrG-6iyr-XHYAlhTgbNL6yaTeoehLa7II130_assertion; np:hasProvenance dgn-np:NP875416.RAB1Q8bMpVtxRrG-6iyr-XHYAlhTgbNL6yaTeoehLa7II130_provenance; np:hasPublicationInfo dgn-np:NP875416.RAB1Q8bMpVtxRrG-6iyr-XHYAlhTgbNL6yaTeoehLa7II130_publicationInfo; a np:Nanopublication . dgn-np:NP875416.RAB1Q8bMpVtxRrG-6iyr-XHYAlhTgbNL6yaTeoehLa7II130_assertion a np:Assertion . dgn-np:NP875416.RAB1Q8bMpVtxRrG-6iyr-XHYAlhTgbNL6yaTeoehLa7II130_provenance a np:Provenance . dgn-np:NP875416.RAB1Q8bMpVtxRrG-6iyr-XHYAlhTgbNL6yaTeoehLa7II130_publicationInfo a np:PublicationInfo . } dgn-np:NP875416.RAB1Q8bMpVtxRrG-6iyr-XHYAlhTgbNL6yaTeoehLa7II130_assertion { miriam-gene:1403 a ncit:C16612 . lld:C1261287 a ncit:C7057 . dgn-gda:DGN110e73c98887100825eab778fb2e0a56 sio:SIO_000628 miriam-gene:1403, lld:C1261287; a sio:SIO_001121 . } dgn-np:NP875416.RAB1Q8bMpVtxRrG-6iyr-XHYAlhTgbNL6yaTeoehLa7II130_provenance { dgn-np:NP875416.RAB1Q8bMpVtxRrG-6iyr-XHYAlhTgbNL6yaTeoehLa7II130_assertion dcterms:description "[In addition to craniosynostosis with crouzonoid facies and acanthosis nigricans (present in all patients), melanocytic nevi, choanal atresia or stenosis, hydrocephalus, Chiari malformations and oral abnormalities were observed in the majority of the 35 patients analyzed.]. 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:17935505; 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:NP875416.RAB1Q8bMpVtxRrG-6iyr-XHYAlhTgbNL6yaTeoehLa7II130_publicationInfo { this: dcterms:created "2014-10-02T12:40:55+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" . }