@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:NP569990.RAYCgYygd6xysqJcxTuDkxa_XHYvOUaAfyBPNEY5LDja4130_head { this: np:hasAssertion dgn-np:NP569990.RAYCgYygd6xysqJcxTuDkxa_XHYvOUaAfyBPNEY5LDja4130_assertion; np:hasProvenance dgn-np:NP569990.RAYCgYygd6xysqJcxTuDkxa_XHYvOUaAfyBPNEY5LDja4130_provenance; np:hasPublicationInfo dgn-np:NP569990.RAYCgYygd6xysqJcxTuDkxa_XHYvOUaAfyBPNEY5LDja4130_publicationInfo; a np:Nanopublication . dgn-np:NP569990.RAYCgYygd6xysqJcxTuDkxa_XHYvOUaAfyBPNEY5LDja4130_assertion a np:Assertion . dgn-np:NP569990.RAYCgYygd6xysqJcxTuDkxa_XHYvOUaAfyBPNEY5LDja4130_provenance a np:Provenance . dgn-np:NP569990.RAYCgYygd6xysqJcxTuDkxa_XHYvOUaAfyBPNEY5LDja4130_publicationInfo a np:PublicationInfo . } dgn-np:NP569990.RAYCgYygd6xysqJcxTuDkxa_XHYvOUaAfyBPNEY5LDja4130_assertion { miriam-gene:4436 a ncit:C16612 . lld:C0178874 a ncit:C7057 . dgn-gda:DGNf130fcc6fb65a7ccb545b0b91b1aa35a sio:SIO_000628 miriam-gene:4436, lld:C0178874; a sio:SIO_001121 . } dgn-np:NP569990.RAYCgYygd6xysqJcxTuDkxa_XHYvOUaAfyBPNEY5LDja4130_provenance { dgn-np:NP569990.RAYCgYygd6xysqJcxTuDkxa_XHYvOUaAfyBPNEY5LDja4130_assertion dcterms:description "[Constitutional hMSH2/hMLH1 mutations rarely are reported in other than colon MIN+ tumor types; 2) MIN in non-HNPCC tumors generally is not associated with somatic mutations in the mismatch DNA repair genes most commonly involved in HNPCC; 3) loci of individual chromosomes containing microsatellite markers demonstrating high MIN frequency may be linked to particular tumor types (tumor specific MIN hot spots); 4) the gel banding patterns of MIN observed in noncolon tumors differ significantly from those reported previously in HNPCC; 5) although overall no association between MIN and histopathology is observed in the literature, a statistically higher MIN frequency has been noted in certain tumor subtypes; and 6) MIN in tumors can be associated with early or late stages of tumor progression, and also has been found in nontumor tissues.]. 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:9587112; 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:NP569990.RAYCgYygd6xysqJcxTuDkxa_XHYvOUaAfyBPNEY5LDja4130_publicationInfo { this: dcterms:created "2015-08-25T14:43:19+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" . }