@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:NP1282829.RAZQe76jUGWhSlzV1c2Oap7_-_cL7GgnLCjETvltmStGM130_head { this: np:hasAssertion dgn-np:NP1282829.RAZQe76jUGWhSlzV1c2Oap7_-_cL7GgnLCjETvltmStGM130_assertion; np:hasProvenance dgn-np:NP1282829.RAZQe76jUGWhSlzV1c2Oap7_-_cL7GgnLCjETvltmStGM130_provenance; np:hasPublicationInfo dgn-np:NP1282829.RAZQe76jUGWhSlzV1c2Oap7_-_cL7GgnLCjETvltmStGM130_publicationInfo; a np:Nanopublication . dgn-np:NP1282829.RAZQe76jUGWhSlzV1c2Oap7_-_cL7GgnLCjETvltmStGM130_assertion a np:Assertion . dgn-np:NP1282829.RAZQe76jUGWhSlzV1c2Oap7_-_cL7GgnLCjETvltmStGM130_provenance a np:Provenance . dgn-np:NP1282829.RAZQe76jUGWhSlzV1c2Oap7_-_cL7GgnLCjETvltmStGM130_publicationInfo a np:PublicationInfo . } dgn-np:NP1282829.RAZQe76jUGWhSlzV1c2Oap7_-_cL7GgnLCjETvltmStGM130_assertion { miriam-gene:89884 a ncit:C16612 . lld:C0242343 a ncit:C7057 . dgn-gda:DGNd1bb8a1bd3c4d8b9a59032b58f52b930 sio:SIO_000628 miriam-gene:89884, lld:C0242343; a sio:SIO_001122 . } dgn-np:NP1282829.RAZQe76jUGWhSlzV1c2Oap7_-_cL7GgnLCjETvltmStGM130_provenance { dgn-np:NP1282829.RAZQe76jUGWhSlzV1c2Oap7_-_cL7GgnLCjETvltmStGM130_assertion dcterms:description "[It supports the causative role of the W204X mutation in CPHD and adds up childhood onset ACTH deficiency to the clinical spectrum of the various phenotypes related to LHX4 mutations.]. 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:25955177; 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:NP1282829.RAZQe76jUGWhSlzV1c2Oap7_-_cL7GgnLCjETvltmStGM130_publicationInfo { this: dcterms:created "2016-05-13T12:51:27+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" . }