@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:NP549616.RAd3A3-lpceCFiXCSZI0Of5-WHu_0WGYH_2-t-fvb6hT4130_head { this: np:hasAssertion dgn-np:NP549616.RAd3A3-lpceCFiXCSZI0Of5-WHu_0WGYH_2-t-fvb6hT4130_assertion; np:hasProvenance dgn-np:NP549616.RAd3A3-lpceCFiXCSZI0Of5-WHu_0WGYH_2-t-fvb6hT4130_provenance; np:hasPublicationInfo dgn-np:NP549616.RAd3A3-lpceCFiXCSZI0Of5-WHu_0WGYH_2-t-fvb6hT4130_publicationInfo; a np:Nanopublication . dgn-np:NP549616.RAd3A3-lpceCFiXCSZI0Of5-WHu_0WGYH_2-t-fvb6hT4130_assertion a np:Assertion . dgn-np:NP549616.RAd3A3-lpceCFiXCSZI0Of5-WHu_0WGYH_2-t-fvb6hT4130_provenance a np:Provenance . dgn-np:NP549616.RAd3A3-lpceCFiXCSZI0Of5-WHu_0WGYH_2-t-fvb6hT4130_publicationInfo a np:PublicationInfo . } dgn-np:NP549616.RAd3A3-lpceCFiXCSZI0Of5-WHu_0WGYH_2-t-fvb6hT4130_assertion { miriam-gene:2006 a ncit:C16612 . lld:C0025362 a ncit:C7057 . dgn-gda:DGN81c209822d6ca9c12af67ae86778dc83 sio:SIO_000628 miriam-gene:2006, lld:C0025362; a sio:SIO_001121 . } dgn-np:NP549616.RAd3A3-lpceCFiXCSZI0Of5-WHu_0WGYH_2-t-fvb6hT4130_provenance { dgn-np:NP549616.RAd3A3-lpceCFiXCSZI0Of5-WHu_0WGYH_2-t-fvb6hT4130_assertion dcterms:description "[Hemizygosity of the elastin (ELN) gene can account for the vascular and connective tissue abnormalities observed in WS patients, but the genes that contribute to features such as infantile hypercalcemia, dysmorphic facies, and mental retardation remain to be identified.]. 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:8812460; 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:NP549616.RAd3A3-lpceCFiXCSZI0Of5-WHu_0WGYH_2-t-fvb6hT4130_publicationInfo { this: dcterms:created "2014-10-02T12:37:31+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" . }