@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:NP717733.RAJJSJVNEtuBlOosDVy1JPv3xoLbG7BUcdQGtylUtb6nA130_head { this: np:hasAssertion dgn-np:NP717733.RAJJSJVNEtuBlOosDVy1JPv3xoLbG7BUcdQGtylUtb6nA130_assertion; np:hasProvenance dgn-np:NP717733.RAJJSJVNEtuBlOosDVy1JPv3xoLbG7BUcdQGtylUtb6nA130_provenance; np:hasPublicationInfo dgn-np:NP717733.RAJJSJVNEtuBlOosDVy1JPv3xoLbG7BUcdQGtylUtb6nA130_publicationInfo; a np:Nanopublication . dgn-np:NP717733.RAJJSJVNEtuBlOosDVy1JPv3xoLbG7BUcdQGtylUtb6nA130_assertion a np:Assertion . dgn-np:NP717733.RAJJSJVNEtuBlOosDVy1JPv3xoLbG7BUcdQGtylUtb6nA130_provenance a np:Provenance . dgn-np:NP717733.RAJJSJVNEtuBlOosDVy1JPv3xoLbG7BUcdQGtylUtb6nA130_publicationInfo a np:PublicationInfo . } dgn-np:NP717733.RAJJSJVNEtuBlOosDVy1JPv3xoLbG7BUcdQGtylUtb6nA130_assertion { miriam-gene:5979 a ncit:C16612 . lld:C2931876 a ncit:C7057 . dgn-gda:DGN0507e9ccea0a14c346b16928b1a3fad6 sio:SIO_000628 miriam-gene:5979, lld:C2931876; a sio:SIO_001121 . } dgn-np:NP717733.RAJJSJVNEtuBlOosDVy1JPv3xoLbG7BUcdQGtylUtb6nA130_provenance { dgn-np:NP717733.RAJJSJVNEtuBlOosDVy1JPv3xoLbG7BUcdQGtylUtb6nA130_assertion dcterms:description "[We conclude that genomic rearrangements in RET are rare and were not responsible for the HSCR phenotype in individuals without identifiable germline RET variants in our group of patients, yet this possibility cannot be excluded altogether because the confidence to identify variation in at least two percent of the individuals was only 95%.]. 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:19183406; 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:NP717733.RAJJSJVNEtuBlOosDVy1JPv3xoLbG7BUcdQGtylUtb6nA130_publicationInfo { this: dcterms:created "2016-05-13T12:47:10+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" . }