@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:NP847002.RAoSqBpFoENTuyN5h2pTcAH3Fa-kWSqV_HmC7D1zManNg130_head { this: np:hasAssertion dgn-np:NP847002.RAoSqBpFoENTuyN5h2pTcAH3Fa-kWSqV_HmC7D1zManNg130_assertion; np:hasProvenance dgn-np:NP847002.RAoSqBpFoENTuyN5h2pTcAH3Fa-kWSqV_HmC7D1zManNg130_provenance; np:hasPublicationInfo dgn-np:NP847002.RAoSqBpFoENTuyN5h2pTcAH3Fa-kWSqV_HmC7D1zManNg130_publicationInfo; a np:Nanopublication . dgn-np:NP847002.RAoSqBpFoENTuyN5h2pTcAH3Fa-kWSqV_HmC7D1zManNg130_assertion a np:Assertion . dgn-np:NP847002.RAoSqBpFoENTuyN5h2pTcAH3Fa-kWSqV_HmC7D1zManNg130_provenance a np:Provenance . dgn-np:NP847002.RAoSqBpFoENTuyN5h2pTcAH3Fa-kWSqV_HmC7D1zManNg130_publicationInfo a np:PublicationInfo . } dgn-np:NP847002.RAoSqBpFoENTuyN5h2pTcAH3Fa-kWSqV_HmC7D1zManNg130_assertion { miriam-gene:2688 a ncit:C16612 . lld:C0948740 a ncit:C7057 . dgn-gda:DGNc996160cf363a7a1498ecdc9d694a5dd sio:SIO_000628 miriam-gene:2688, lld:C0948740; a sio:SIO_001121 . } dgn-np:NP847002.RAoSqBpFoENTuyN5h2pTcAH3Fa-kWSqV_HmC7D1zManNg130_provenance { dgn-np:NP847002.RAoSqBpFoENTuyN5h2pTcAH3Fa-kWSqV_HmC7D1zManNg130_assertion dcterms:description "[Dominant-negative growth hormone gene (GH1) mutations cause familial isolated growth hormone deficiency type II (IGHD II), which is characterized by GH deficiency, occasional multiple anterior pituitary hormone deficiencies, and anterior pituitary hypoplasia.]. 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:21707947; 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:NP847002.RAoSqBpFoENTuyN5h2pTcAH3Fa-kWSqV_HmC7D1zManNg130_publicationInfo { this: dcterms:created "2014-10-02T12:40:38+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" . }