@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:NP424549.RAjkuta4RAj7qIm1G0vof10jtFwVc0HUE3jorf1Nd3OY4130_head { this: np:hasAssertion dgn-np:NP424549.RAjkuta4RAj7qIm1G0vof10jtFwVc0HUE3jorf1Nd3OY4130_assertion; np:hasProvenance dgn-np:NP424549.RAjkuta4RAj7qIm1G0vof10jtFwVc0HUE3jorf1Nd3OY4130_provenance; np:hasPublicationInfo dgn-np:NP424549.RAjkuta4RAj7qIm1G0vof10jtFwVc0HUE3jorf1Nd3OY4130_publicationInfo; a np:Nanopublication . dgn-np:NP424549.RAjkuta4RAj7qIm1G0vof10jtFwVc0HUE3jorf1Nd3OY4130_assertion a np:Assertion . dgn-np:NP424549.RAjkuta4RAj7qIm1G0vof10jtFwVc0HUE3jorf1Nd3OY4130_provenance a np:Provenance . dgn-np:NP424549.RAjkuta4RAj7qIm1G0vof10jtFwVc0HUE3jorf1Nd3OY4130_publicationInfo a np:PublicationInfo . } dgn-np:NP424549.RAjkuta4RAj7qIm1G0vof10jtFwVc0HUE3jorf1Nd3OY4130_assertion { miriam-gene:2690 a ncit:C16612 . lld:C0013338 a ncit:C7057 . dgn-gda:DGNea15efacbf13434e3ce7f9271b7ff7ac sio:SIO_000628 miriam-gene:2690, lld:C0013338; a sio:SIO_001123 . } dgn-np:NP424549.RAjkuta4RAj7qIm1G0vof10jtFwVc0HUE3jorf1Nd3OY4130_provenance { dgn-np:NP424549.RAjkuta4RAj7qIm1G0vof10jtFwVc0HUE3jorf1Nd3OY4130_assertion dcterms:description "[Clinical and laboratory investigations starting in 1958 of a group of dwarfed children resembling isolated GH deficiency but who had very high serum levels of GH led to the description of the syndrome of primary GH resistance or insensitivity (Laron syndrome) and subsequently to the discovery of its molecular defects residing in the GH receptor and leading to an inability of IGF-I generation.]. 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:15001582; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP424549.RAjkuta4RAj7qIm1G0vof10jtFwVc0HUE3jorf1Nd3OY4130_publicationInfo { this: dcterms:created "2015-08-25T14:41:47+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }