@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:NP450933.RAfLXYmt1jYj93BXNEM5eCYEgaJkO8FR1IAlQZI6uLROE130_head { this: np:hasAssertion dgn-np:NP450933.RAfLXYmt1jYj93BXNEM5eCYEgaJkO8FR1IAlQZI6uLROE130_assertion; np:hasProvenance dgn-np:NP450933.RAfLXYmt1jYj93BXNEM5eCYEgaJkO8FR1IAlQZI6uLROE130_provenance; np:hasPublicationInfo dgn-np:NP450933.RAfLXYmt1jYj93BXNEM5eCYEgaJkO8FR1IAlQZI6uLROE130_publicationInfo; a np:Nanopublication . dgn-np:NP450933.RAfLXYmt1jYj93BXNEM5eCYEgaJkO8FR1IAlQZI6uLROE130_assertion a np:Assertion . dgn-np:NP450933.RAfLXYmt1jYj93BXNEM5eCYEgaJkO8FR1IAlQZI6uLROE130_provenance a np:Provenance . dgn-np:NP450933.RAfLXYmt1jYj93BXNEM5eCYEgaJkO8FR1IAlQZI6uLROE130_publicationInfo a np:PublicationInfo . } dgn-np:NP450933.RAfLXYmt1jYj93BXNEM5eCYEgaJkO8FR1IAlQZI6uLROE130_assertion { miriam-gene:51119 a ncit:C16612 . lld:C3714796 a ncit:C7057 . dgn-gda:DGN5f6963e2f83d2a310a1f8ab2a710e1d6 sio:SIO_000628 miriam-gene:51119, lld:C3714796; a sio:SIO_001122 . } dgn-np:NP450933.RAfLXYmt1jYj93BXNEM5eCYEgaJkO8FR1IAlQZI6uLROE130_provenance { dgn-np:NP450933.RAfLXYmt1jYj93BXNEM5eCYEgaJkO8FR1IAlQZI6uLROE130_assertion dcterms:description "[We describe two male siblings with IGHD due to a homozygous missense GHRHR mutation who, because they were started on hGH therapy at different ages, presented with different height SDS at the onset of puberty and therefore had different predicted target heights.]. 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:15237716; 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:NP450933.RAfLXYmt1jYj93BXNEM5eCYEgaJkO8FR1IAlQZI6uLROE130_publicationInfo { this: dcterms:created "2016-05-13T12:45:09+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" . }