@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:NP327811.RAxgIu4Z0KRthbHOI6CPJyig8F4FNw9rO8uD5J1wzCUzA130_head { this: np:hasAssertion dgn-np:NP327811.RAxgIu4Z0KRthbHOI6CPJyig8F4FNw9rO8uD5J1wzCUzA130_assertion; np:hasProvenance dgn-np:NP327811.RAxgIu4Z0KRthbHOI6CPJyig8F4FNw9rO8uD5J1wzCUzA130_provenance; np:hasPublicationInfo dgn-np:NP327811.RAxgIu4Z0KRthbHOI6CPJyig8F4FNw9rO8uD5J1wzCUzA130_publicationInfo; a np:Nanopublication . dgn-np:NP327811.RAxgIu4Z0KRthbHOI6CPJyig8F4FNw9rO8uD5J1wzCUzA130_assertion a np:Assertion . dgn-np:NP327811.RAxgIu4Z0KRthbHOI6CPJyig8F4FNw9rO8uD5J1wzCUzA130_provenance a np:Provenance . dgn-np:NP327811.RAxgIu4Z0KRthbHOI6CPJyig8F4FNw9rO8uD5J1wzCUzA130_publicationInfo a np:PublicationInfo . } dgn-np:NP327811.RAxgIu4Z0KRthbHOI6CPJyig8F4FNw9rO8uD5J1wzCUzA130_assertion { miriam-gene:4041 a ncit:C16612 . lld:C0432272 a ncit:C7057 . dgn-gda:DGN551ddd3e86957590c02c5c4db6aed283 sio:SIO_000628 miriam-gene:4041, lld:C0432272; a sio:SIO_001121 . } dgn-np:NP327811.RAxgIu4Z0KRthbHOI6CPJyig8F4FNw9rO8uD5J1wzCUzA130_provenance { dgn-np:NP327811.RAxgIu4Z0KRthbHOI6CPJyig8F4FNw9rO8uD5J1wzCUzA130_assertion dcterms:description "[We performed mutation analysis of the LRP5 gene in 10 families or isolated patients with different conditions with an increased bone density, including endosteal hyperostosis, Van Buchem disease, autosomal dominant osteosclerosis, and osteopetrosis type I.]. 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:12579474; 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:NP327811.RAxgIu4Z0KRthbHOI6CPJyig8F4FNw9rO8uD5J1wzCUzA130_publicationInfo { this: dcterms:created "2014-10-02T12:35:13+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" . }