@prefix this: . @prefix sub: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-gda: . @prefix dgn-void: . sub:head { this: np:hasAssertion sub:assertion; np:hasProvenance sub:provenance; np:hasPublicationInfo sub:publicationInfo; a np:Nanopublication . } sub:assertion { dgn-gda:DGN1ca6b8dec02fa79ae5031e17676040d4 sio:SIO_000628 miriam-gene:4292, lld:C1333990; a sio:SIO_001122 . } sub:provenance { sub: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; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:BEFREE pav:importedOn "2017-02-19"^^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 . } sub:publicationInfo { this: dcterms:created "2017-10-17T13:14:34+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 "v5.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v5.0.0" . }