@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:NP1342608.RAohusQ6g2iRCNLKCG2_meHxJHydcNAxHR5690sGtiYb8130_head { this: np:hasAssertion dgn-np:NP1342608.RAohusQ6g2iRCNLKCG2_meHxJHydcNAxHR5690sGtiYb8130_assertion; np:hasProvenance dgn-np:NP1342608.RAohusQ6g2iRCNLKCG2_meHxJHydcNAxHR5690sGtiYb8130_provenance; np:hasPublicationInfo dgn-np:NP1342608.RAohusQ6g2iRCNLKCG2_meHxJHydcNAxHR5690sGtiYb8130_publicationInfo; a np:Nanopublication . dgn-np:NP1342608.RAohusQ6g2iRCNLKCG2_meHxJHydcNAxHR5690sGtiYb8130_assertion a np:Assertion . dgn-np:NP1342608.RAohusQ6g2iRCNLKCG2_meHxJHydcNAxHR5690sGtiYb8130_provenance a np:Provenance . dgn-np:NP1342608.RAohusQ6g2iRCNLKCG2_meHxJHydcNAxHR5690sGtiYb8130_publicationInfo a np:PublicationInfo . } dgn-np:NP1342608.RAohusQ6g2iRCNLKCG2_meHxJHydcNAxHR5690sGtiYb8130_assertion { miriam-gene:5314 a ncit:C16612 . lld:C0000768 a ncit:C7057 . dgn-gda:DGN14ce74974a15e4b80ed12a3fa220cb03 sio:SIO_000628 miriam-gene:5314, lld:C0000768; a sio:SIO_001121 . } dgn-np:NP1342608.RAohusQ6g2iRCNLKCG2_meHxJHydcNAxHR5690sGtiYb8130_provenance { dgn-np:NP1342608.RAohusQ6g2iRCNLKCG2_meHxJHydcNAxHR5690sGtiYb8130_assertion dcterms:description "[We report on 3 pairs of sibs from unrelated families, who present with polycystic kidneys Potter type I claimed to be specific for the ARPKD, and with microbrachycephaly, hypertelorism with telecanthus, large posteriorly angulated fleshy ears and various congenital malformations including congenital heart defects.]. 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:8465860; 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:NP1342608.RAohusQ6g2iRCNLKCG2_meHxJHydcNAxHR5690sGtiYb8130_publicationInfo { this: dcterms:created "2016-05-13T12:51:55+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" . }