@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:NP166639.RAQ3u14Cl3bKXqtpcn1fuUcV6qRfZ_aHQq4R5iyhn4WkI130_head { this: np:hasAssertion dgn-np:NP166639.RAQ3u14Cl3bKXqtpcn1fuUcV6qRfZ_aHQq4R5iyhn4WkI130_assertion; np:hasProvenance dgn-np:NP166639.RAQ3u14Cl3bKXqtpcn1fuUcV6qRfZ_aHQq4R5iyhn4WkI130_provenance; np:hasPublicationInfo dgn-np:NP166639.RAQ3u14Cl3bKXqtpcn1fuUcV6qRfZ_aHQq4R5iyhn4WkI130_publicationInfo; a np:Nanopublication . dgn-np:NP166639.RAQ3u14Cl3bKXqtpcn1fuUcV6qRfZ_aHQq4R5iyhn4WkI130_assertion a np:Assertion . dgn-np:NP166639.RAQ3u14Cl3bKXqtpcn1fuUcV6qRfZ_aHQq4R5iyhn4WkI130_provenance a np:Provenance . dgn-np:NP166639.RAQ3u14Cl3bKXqtpcn1fuUcV6qRfZ_aHQq4R5iyhn4WkI130_publicationInfo a np:PublicationInfo . } dgn-np:NP166639.RAQ3u14Cl3bKXqtpcn1fuUcV6qRfZ_aHQq4R5iyhn4WkI130_assertion { miriam-gene:3481 a ncit:C16612 . lld:C0004903 a ncit:C7057 . dgn-gda:DGN8577cbf08885ccc51355bc59b342410e sio:SIO_000628 miriam-gene:3481, lld:C0004903; a sio:SIO_001121 . } dgn-np:NP166639.RAQ3u14Cl3bKXqtpcn1fuUcV6qRfZ_aHQq4R5iyhn4WkI130_provenance { dgn-np:NP166639.RAQ3u14Cl3bKXqtpcn1fuUcV6qRfZ_aHQq4R5iyhn4WkI130_assertion dcterms:description "[These results raise the possibility that a defective modifier or regulatory gene unlinked to 11p15.5 caused a spectrum of epigenetic alterations in the germ line or early development of both cousins, ranging from the relaxation of IGF2 imprinting in the KTWS proband to disruption of both the imprinted expression of IGF2 and the imprinted methylation of KvDMR1 in the BWS proband.]. 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:10712200; 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:NP166639.RAQ3u14Cl3bKXqtpcn1fuUcV6qRfZ_aHQq4R5iyhn4WkI130_publicationInfo { this: dcterms:created "2014-10-02T12:33:30+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" . }