@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:NP782717.RA1HvR7sTsNJxtQuHF51lY45KvAd3prxIxKxUYSkc8siM130_head { this: np:hasAssertion dgn-np:NP782717.RA1HvR7sTsNJxtQuHF51lY45KvAd3prxIxKxUYSkc8siM130_assertion; np:hasProvenance dgn-np:NP782717.RA1HvR7sTsNJxtQuHF51lY45KvAd3prxIxKxUYSkc8siM130_provenance; np:hasPublicationInfo dgn-np:NP782717.RA1HvR7sTsNJxtQuHF51lY45KvAd3prxIxKxUYSkc8siM130_publicationInfo; a np:Nanopublication . dgn-np:NP782717.RA1HvR7sTsNJxtQuHF51lY45KvAd3prxIxKxUYSkc8siM130_assertion a np:Assertion . dgn-np:NP782717.RA1HvR7sTsNJxtQuHF51lY45KvAd3prxIxKxUYSkc8siM130_provenance a np:Provenance . dgn-np:NP782717.RA1HvR7sTsNJxtQuHF51lY45KvAd3prxIxKxUYSkc8siM130_publicationInfo a np:PublicationInfo . } dgn-np:NP782717.RA1HvR7sTsNJxtQuHF51lY45KvAd3prxIxKxUYSkc8siM130_assertion { miriam-gene:7681 a ncit:C16612 . lld:C0015544 a ncit:C7057 . dgn-gda:DGN580a223ccdf7ea592b09a36a048c8570 sio:SIO_000628 miriam-gene:7681, lld:C0015544; a sio:SIO_001121 . } dgn-np:NP782717.RA1HvR7sTsNJxtQuHF51lY45KvAd3prxIxKxUYSkc8siM130_provenance { dgn-np:NP782717.RA1HvR7sTsNJxtQuHF51lY45KvAd3prxIxKxUYSkc8siM130_assertion dcterms:description "[Pups inheriting this mutation paternally lack detectable expression of all PWS genes and paternal silencing of Ube3a, exhibit maternal DNA methylation imprints at Ndn and Mkrn3 and suffer failure to thrive leading to a fully penetrant neonatal lethality.]. 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:21659337; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP782717.RA1HvR7sTsNJxtQuHF51lY45KvAd3prxIxKxUYSkc8siM130_publicationInfo { this: dcterms:created "2015-08-25T14:45:33+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }