@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:NP476108.RAnbDAK2G9cSR73ZlgT4chMqWL1F6NW_WGcA4QTbDuYI0130_head { this: np:hasAssertion dgn-np:NP476108.RAnbDAK2G9cSR73ZlgT4chMqWL1F6NW_WGcA4QTbDuYI0130_assertion; np:hasProvenance dgn-np:NP476108.RAnbDAK2G9cSR73ZlgT4chMqWL1F6NW_WGcA4QTbDuYI0130_provenance; np:hasPublicationInfo dgn-np:NP476108.RAnbDAK2G9cSR73ZlgT4chMqWL1F6NW_WGcA4QTbDuYI0130_publicationInfo; a np:Nanopublication . dgn-np:NP476108.RAnbDAK2G9cSR73ZlgT4chMqWL1F6NW_WGcA4QTbDuYI0130_assertion a np:Assertion . dgn-np:NP476108.RAnbDAK2G9cSR73ZlgT4chMqWL1F6NW_WGcA4QTbDuYI0130_provenance a np:Provenance . dgn-np:NP476108.RAnbDAK2G9cSR73ZlgT4chMqWL1F6NW_WGcA4QTbDuYI0130_publicationInfo a np:PublicationInfo . } dgn-np:NP476108.RAnbDAK2G9cSR73ZlgT4chMqWL1F6NW_WGcA4QTbDuYI0130_assertion { miriam-gene:324 a ncit:C16612 . lld:C0265325 a ncit:C7057 . dgn-gda:DGN0bb9620464d3a4018bdfdc86e1a1aeb4 sio:SIO_000628 miriam-gene:324, lld:C0265325; a sio:SIO_001121 . } dgn-np:NP476108.RAnbDAK2G9cSR73ZlgT4chMqWL1F6NW_WGcA4QTbDuYI0130_provenance { dgn-np:NP476108.RAnbDAK2G9cSR73ZlgT4chMqWL1F6NW_WGcA4QTbDuYI0130_assertion dcterms:description "[The former appears to be mostly due to mutations in the APC gene, and the latter to mutations in mismatch repair (MMR) genes, so it would be better named as hereditary mismatch repair deficiency (HMRDS).]. 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:15648180; 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:NP476108.RAnbDAK2G9cSR73ZlgT4chMqWL1F6NW_WGcA4QTbDuYI0130_publicationInfo { this: dcterms:created "2016-05-13T12:45:20+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" . }