@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:NP1325535.RAJvyCan6xp0ykdh-RroHtmckgmcp6rFES1yfGUp3jOS0130_head { this: np:hasAssertion dgn-np:NP1325535.RAJvyCan6xp0ykdh-RroHtmckgmcp6rFES1yfGUp3jOS0130_assertion; np:hasProvenance dgn-np:NP1325535.RAJvyCan6xp0ykdh-RroHtmckgmcp6rFES1yfGUp3jOS0130_provenance; np:hasPublicationInfo dgn-np:NP1325535.RAJvyCan6xp0ykdh-RroHtmckgmcp6rFES1yfGUp3jOS0130_publicationInfo; a np:Nanopublication . dgn-np:NP1325535.RAJvyCan6xp0ykdh-RroHtmckgmcp6rFES1yfGUp3jOS0130_assertion a np:Assertion . dgn-np:NP1325535.RAJvyCan6xp0ykdh-RroHtmckgmcp6rFES1yfGUp3jOS0130_provenance a np:Provenance . dgn-np:NP1325535.RAJvyCan6xp0ykdh-RroHtmckgmcp6rFES1yfGUp3jOS0130_publicationInfo a np:PublicationInfo . } dgn-np:NP1325535.RAJvyCan6xp0ykdh-RroHtmckgmcp6rFES1yfGUp3jOS0130_assertion { miriam-gene:5979 a ncit:C16612 . lld:C0019569 a ncit:C7057 . dgn-gda:DGN7628a4a8e537243eab0408045bab74b8 sio:SIO_000628 miriam-gene:5979, lld:C0019569; a sio:SIO_001121 . } dgn-np:NP1325535.RAJvyCan6xp0ykdh-RroHtmckgmcp6rFES1yfGUp3jOS0130_provenance { dgn-np:NP1325535.RAJvyCan6xp0ykdh-RroHtmckgmcp6rFES1yfGUp3jOS0130_assertion dcterms:description "[This information is relevant for the screening of recently reported missense mutations of RET which cause Multiple Endocrine Neoplasia 2A (MEN2A) and for the search of additional point mutations of the same gene which might cause two other neural crest disorders, MEN2B and Hirschsprung disease, mapping in the same region as MEN2A.]. 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:7902707; 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:NP1325535.RAJvyCan6xp0ykdh-RroHtmckgmcp6rFES1yfGUp3jOS0130_publicationInfo { this: dcterms:created "2016-05-13T12:51:47+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" . }