@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:NP622946.RAV2UDgqQ2-37sTWtEztDIwNGJLSg6PdZbmeKLU23J5gI130_head { this: np:hasAssertion dgn-np:NP622946.RAV2UDgqQ2-37sTWtEztDIwNGJLSg6PdZbmeKLU23J5gI130_assertion; np:hasProvenance dgn-np:NP622946.RAV2UDgqQ2-37sTWtEztDIwNGJLSg6PdZbmeKLU23J5gI130_provenance; np:hasPublicationInfo dgn-np:NP622946.RAV2UDgqQ2-37sTWtEztDIwNGJLSg6PdZbmeKLU23J5gI130_publicationInfo; a np:Nanopublication . dgn-np:NP622946.RAV2UDgqQ2-37sTWtEztDIwNGJLSg6PdZbmeKLU23J5gI130_assertion a np:Assertion . dgn-np:NP622946.RAV2UDgqQ2-37sTWtEztDIwNGJLSg6PdZbmeKLU23J5gI130_provenance a np:Provenance . dgn-np:NP622946.RAV2UDgqQ2-37sTWtEztDIwNGJLSg6PdZbmeKLU23J5gI130_publicationInfo a np:PublicationInfo . } dgn-np:NP622946.RAV2UDgqQ2-37sTWtEztDIwNGJLSg6PdZbmeKLU23J5gI130_assertion { miriam-gene:4920 a ncit:C16612 . lld:C0221357 a ncit:C7057 . dgn-gda:DGN2b2d6326df0ebe722837c025e1a1e92d sio:SIO_000628 miriam-gene:4920, lld:C0221357; a sio:SIO_001121 . } dgn-np:NP622946.RAV2UDgqQ2-37sTWtEztDIwNGJLSg6PdZbmeKLU23J5gI130_provenance { dgn-np:NP622946.RAV2UDgqQ2-37sTWtEztDIwNGJLSg6PdZbmeKLU23J5gI130_assertion dcterms:description "[Mutations of the former cause the nevoid basal cell carcinoma syndrome (NBCCS) while mutations in the ROR2 gene have been found both in Robinow syndrome and in brachydactyly type 1B (BDB1).]. 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:12548386; 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:NP622946.RAV2UDgqQ2-37sTWtEztDIwNGJLSg6PdZbmeKLU23J5gI130_publicationInfo { this: dcterms:created "2014-10-02T12:38:16+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" . }