@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:NP851389.RAMnNIgRc0iEyp_V47my1v7nQ5EDBJuxx0IuUPMQb1RG0130_head { this: np:hasAssertion dgn-np:NP851389.RAMnNIgRc0iEyp_V47my1v7nQ5EDBJuxx0IuUPMQb1RG0130_assertion; np:hasProvenance dgn-np:NP851389.RAMnNIgRc0iEyp_V47my1v7nQ5EDBJuxx0IuUPMQb1RG0130_provenance; np:hasPublicationInfo dgn-np:NP851389.RAMnNIgRc0iEyp_V47my1v7nQ5EDBJuxx0IuUPMQb1RG0130_publicationInfo; a np:Nanopublication . dgn-np:NP851389.RAMnNIgRc0iEyp_V47my1v7nQ5EDBJuxx0IuUPMQb1RG0130_assertion a np:Assertion . dgn-np:NP851389.RAMnNIgRc0iEyp_V47my1v7nQ5EDBJuxx0IuUPMQb1RG0130_provenance a np:Provenance . dgn-np:NP851389.RAMnNIgRc0iEyp_V47my1v7nQ5EDBJuxx0IuUPMQb1RG0130_publicationInfo a np:PublicationInfo . } dgn-np:NP851389.RAMnNIgRc0iEyp_V47my1v7nQ5EDBJuxx0IuUPMQb1RG0130_assertion { miriam-gene:8675 a ncit:C16612 . lld:C1864100 a ncit:C7057 . dgn-gda:DGN0169de37f717108de919e59d7a5f0875 sio:SIO_000628 miriam-gene:8675, lld:C1864100; a sio:SIO_001121 . } dgn-np:NP851389.RAMnNIgRc0iEyp_V47my1v7nQ5EDBJuxx0IuUPMQb1RG0130_provenance { dgn-np:NP851389.RAMnNIgRc0iEyp_V47my1v7nQ5EDBJuxx0IuUPMQb1RG0130_assertion dcterms:description "[One autosomal dominant form of PHP type 1b (PHP-Ib) is most frequently caused by a maternally inherited 3-kb deletion within STX16, the gene encoding syntaxin 16.]. 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:21062889; 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:NP851389.RAMnNIgRc0iEyp_V47my1v7nQ5EDBJuxx0IuUPMQb1RG0130_publicationInfo { this: dcterms:created "2016-05-13T12:48:10+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" . }