@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:NP416726.RAVwBWdhYv6NBzsz7onqNPe9wstvzD6qffgisJysHXu7A130_head { this: np:hasAssertion dgn-np:NP416726.RAVwBWdhYv6NBzsz7onqNPe9wstvzD6qffgisJysHXu7A130_assertion; np:hasProvenance dgn-np:NP416726.RAVwBWdhYv6NBzsz7onqNPe9wstvzD6qffgisJysHXu7A130_provenance; np:hasPublicationInfo dgn-np:NP416726.RAVwBWdhYv6NBzsz7onqNPe9wstvzD6qffgisJysHXu7A130_publicationInfo; a np:Nanopublication . dgn-np:NP416726.RAVwBWdhYv6NBzsz7onqNPe9wstvzD6qffgisJysHXu7A130_assertion a np:Assertion . dgn-np:NP416726.RAVwBWdhYv6NBzsz7onqNPe9wstvzD6qffgisJysHXu7A130_provenance a np:Provenance . dgn-np:NP416726.RAVwBWdhYv6NBzsz7onqNPe9wstvzD6qffgisJysHXu7A130_publicationInfo a np:PublicationInfo . } dgn-np:NP416726.RAVwBWdhYv6NBzsz7onqNPe9wstvzD6qffgisJysHXu7A130_assertion { miriam-gene:6473 a ncit:C16612 . lld:C0013336 a ncit:C7057 . dgn-gda:DGN807d39ea0bc2df5a5efc110ea2f9c52c sio:SIO_000628 miriam-gene:6473, lld:C0013336; a sio:SIO_001121 . } dgn-np:NP416726.RAVwBWdhYv6NBzsz7onqNPe9wstvzD6qffgisJysHXu7A130_provenance { dgn-np:NP416726.RAVwBWdhYv6NBzsz7onqNPe9wstvzD6qffgisJysHXu7A130_assertion dcterms:description "[The aim of this study was to estimate the prevalence of SHOX mutations in children with idiopathic short stature and to give an unbiased characterization of the haploinsufficiency phenotype of such children.]. 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:14557470; 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:NP416726.RAVwBWdhYv6NBzsz7onqNPe9wstvzD6qffgisJysHXu7A130_publicationInfo { this: dcterms:created "2016-05-13T12:44:54+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" . }