@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:NP699833.RAmc1VMq8cJtFHe1dt_jh2TAmwzEmPIvc63lGEfMqBr2s130_head { this: np:hasAssertion dgn-np:NP699833.RAmc1VMq8cJtFHe1dt_jh2TAmwzEmPIvc63lGEfMqBr2s130_assertion; np:hasProvenance dgn-np:NP699833.RAmc1VMq8cJtFHe1dt_jh2TAmwzEmPIvc63lGEfMqBr2s130_provenance; np:hasPublicationInfo dgn-np:NP699833.RAmc1VMq8cJtFHe1dt_jh2TAmwzEmPIvc63lGEfMqBr2s130_publicationInfo; a np:Nanopublication . dgn-np:NP699833.RAmc1VMq8cJtFHe1dt_jh2TAmwzEmPIvc63lGEfMqBr2s130_assertion a np:Assertion . dgn-np:NP699833.RAmc1VMq8cJtFHe1dt_jh2TAmwzEmPIvc63lGEfMqBr2s130_provenance a np:Provenance . dgn-np:NP699833.RAmc1VMq8cJtFHe1dt_jh2TAmwzEmPIvc63lGEfMqBr2s130_publicationInfo a np:PublicationInfo . } dgn-np:NP699833.RAmc1VMq8cJtFHe1dt_jh2TAmwzEmPIvc63lGEfMqBr2s130_assertion { miriam-gene:8830 a ncit:C16612 . lld:C1853566 a ncit:C7057 . dgn-gda:DGN8b68cdaf19a7f178191c1a81e97a2036 sio:SIO_000628 miriam-gene:8830, lld:C1853566; a sio:SIO_001121 . } dgn-np:NP699833.RAmc1VMq8cJtFHe1dt_jh2TAmwzEmPIvc63lGEfMqBr2s130_provenance { dgn-np:NP699833.RAmc1VMq8cJtFHe1dt_jh2TAmwzEmPIvc63lGEfMqBr2s130_assertion dcterms:description "[In this review, the phenotype and gene defects of syndromes with congenital patellar aplasia or hypoplasia will be discussed, including the nail patella syndrome, small patella syndrome, isolated patella aplasia hypoplasia, Meier-Gorlin syndrome, RAPADILINO syndrome, and genitopatellar syndrome.]. 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:16143015; 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:NP699833.RAmc1VMq8cJtFHe1dt_jh2TAmwzEmPIvc63lGEfMqBr2s130_publicationInfo { this: dcterms:created "2014-10-02T12:39:05+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" . }