@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:NP332367.RApt1-oxnuFafxJWodWJDjaGXdwizCbkC80QbkFoA3OYo130_head { this: np:hasAssertion dgn-np:NP332367.RApt1-oxnuFafxJWodWJDjaGXdwizCbkC80QbkFoA3OYo130_assertion; np:hasProvenance dgn-np:NP332367.RApt1-oxnuFafxJWodWJDjaGXdwizCbkC80QbkFoA3OYo130_provenance; np:hasPublicationInfo dgn-np:NP332367.RApt1-oxnuFafxJWodWJDjaGXdwizCbkC80QbkFoA3OYo130_publicationInfo; a np:Nanopublication . dgn-np:NP332367.RApt1-oxnuFafxJWodWJDjaGXdwizCbkC80QbkFoA3OYo130_assertion a np:Assertion . dgn-np:NP332367.RApt1-oxnuFafxJWodWJDjaGXdwizCbkC80QbkFoA3OYo130_provenance a np:Provenance . dgn-np:NP332367.RApt1-oxnuFafxJWodWJDjaGXdwizCbkC80QbkFoA3OYo130_publicationInfo a np:PublicationInfo . } dgn-np:NP332367.RApt1-oxnuFafxJWodWJDjaGXdwizCbkC80QbkFoA3OYo130_assertion { miriam-gene:9839 a ncit:C16612 . lld:C2931876 a ncit:C7057 . dgn-gda:DGNb689ca6014bcf522c51cc11751e701be sio:SIO_000628 miriam-gene:9839, lld:C2931876; a sio:SIO_001121 . } dgn-np:NP332367.RApt1-oxnuFafxJWodWJDjaGXdwizCbkC80QbkFoA3OYo130_provenance { dgn-np:NP332367.RApt1-oxnuFafxJWodWJDjaGXdwizCbkC80QbkFoA3OYo130_assertion dcterms:description "[To investigate the breadth of clinical variation, we studied DNA samples from six patients with clinical profiles quite similar to those described elsewhere for ZFHX1B deficiency, except that they did not have HSCR.]. 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:11592033; 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:NP332367.RApt1-oxnuFafxJWodWJDjaGXdwizCbkC80QbkFoA3OYo130_publicationInfo { this: dcterms:created "2016-05-13T12:44:16+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" . }