@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:NP498421.RAk9vs3XSbEyCniZ1BKiE_Px6sHeg57zLcIDx0d8w6bas130_head { this: np:hasAssertion dgn-np:NP498421.RAk9vs3XSbEyCniZ1BKiE_Px6sHeg57zLcIDx0d8w6bas130_assertion; np:hasProvenance dgn-np:NP498421.RAk9vs3XSbEyCniZ1BKiE_Px6sHeg57zLcIDx0d8w6bas130_provenance; np:hasPublicationInfo dgn-np:NP498421.RAk9vs3XSbEyCniZ1BKiE_Px6sHeg57zLcIDx0d8w6bas130_publicationInfo; a np:Nanopublication . dgn-np:NP498421.RAk9vs3XSbEyCniZ1BKiE_Px6sHeg57zLcIDx0d8w6bas130_assertion a np:Assertion . dgn-np:NP498421.RAk9vs3XSbEyCniZ1BKiE_Px6sHeg57zLcIDx0d8w6bas130_provenance a np:Provenance . dgn-np:NP498421.RAk9vs3XSbEyCniZ1BKiE_Px6sHeg57zLcIDx0d8w6bas130_publicationInfo a np:PublicationInfo . } dgn-np:NP498421.RAk9vs3XSbEyCniZ1BKiE_Px6sHeg57zLcIDx0d8w6bas130_assertion { miriam-gene:4360 a ncit:C16612 . lld:C1333990 a ncit:C7057 . dgn-gda:DGNf20a572718a3ea3008160eda42e0e176 sio:SIO_000628 miriam-gene:4360, lld:C1333990; a sio:SIO_001121 . } dgn-np:NP498421.RAk9vs3XSbEyCniZ1BKiE_Px6sHeg57zLcIDx0d8w6bas130_provenance { dgn-np:NP498421.RAk9vs3XSbEyCniZ1BKiE_Px6sHeg57zLcIDx0d8w6bas130_assertion dcterms:description "[A systematic search by Southern blot analysis in a cohort of 439 hereditary nonpolyposis colorectal cancer (HNPCC) families for genomic rearrangements in the main mismatch repair (MMR) genes, namely, MSH2, MLH1, MSH6, and PMS2, identified 48 genomic rearrangements causative of this inherited predisposition to colorectal cancer in 68 unrelated kindreds.]. 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:15942939; 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:NP498421.RAk9vs3XSbEyCniZ1BKiE_Px6sHeg57zLcIDx0d8w6bas130_publicationInfo { this: dcterms:created "2016-05-13T12:45:30+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" . }