@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:NP1378397.RAHEK89I_TiuFivnzJZoVpgB-JRlHzbfOfqzSKqCqoDDo130_head { this: np:hasAssertion dgn-np:NP1378397.RAHEK89I_TiuFivnzJZoVpgB-JRlHzbfOfqzSKqCqoDDo130_assertion; np:hasProvenance dgn-np:NP1378397.RAHEK89I_TiuFivnzJZoVpgB-JRlHzbfOfqzSKqCqoDDo130_provenance; np:hasPublicationInfo dgn-np:NP1378397.RAHEK89I_TiuFivnzJZoVpgB-JRlHzbfOfqzSKqCqoDDo130_publicationInfo; a np:Nanopublication . dgn-np:NP1378397.RAHEK89I_TiuFivnzJZoVpgB-JRlHzbfOfqzSKqCqoDDo130_assertion a np:Assertion . dgn-np:NP1378397.RAHEK89I_TiuFivnzJZoVpgB-JRlHzbfOfqzSKqCqoDDo130_provenance a np:Provenance . dgn-np:NP1378397.RAHEK89I_TiuFivnzJZoVpgB-JRlHzbfOfqzSKqCqoDDo130_publicationInfo a np:PublicationInfo . } dgn-np:NP1378397.RAHEK89I_TiuFivnzJZoVpgB-JRlHzbfOfqzSKqCqoDDo130_assertion { miriam-gene:2688 a ncit:C16612 . lld:C0271568 a ncit:C7057 . dgn-gda:DGN8c42cb90a6edaea146d8827f0de03c1b sio:SIO_000628 miriam-gene:2688, lld:C0271568; a sio:SIO_001121 . } dgn-np:NP1378397.RAHEK89I_TiuFivnzJZoVpgB-JRlHzbfOfqzSKqCqoDDo130_provenance { dgn-np:NP1378397.RAHEK89I_TiuFivnzJZoVpgB-JRlHzbfOfqzSKqCqoDDo130_assertion dcterms:description "[To summarize the steps that led to the recognition of the Laron syndrome of growth-hormone (GH) insensitivity as a recessive disorder that is caused by mutations in the growth hormone receptor (GHR) gene, to discuss the different types of mutations that have been found in the GHR gene, and to examine whether the degree of growth impairment in affected homozygotes depends on the specific type of GHR mutation.]. 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:9255228; 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:NP1378397.RAHEK89I_TiuFivnzJZoVpgB-JRlHzbfOfqzSKqCqoDDo130_publicationInfo { this: dcterms:created "2016-05-13T12:52:10+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" . }