@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:NP646371.RAHUmwPUarBgh4r-25BQ5ue_JjlFIyXUhZgLHf7OvTXDk130_head { this: np:hasAssertion dgn-np:NP646371.RAHUmwPUarBgh4r-25BQ5ue_JjlFIyXUhZgLHf7OvTXDk130_assertion; np:hasProvenance dgn-np:NP646371.RAHUmwPUarBgh4r-25BQ5ue_JjlFIyXUhZgLHf7OvTXDk130_provenance; np:hasPublicationInfo dgn-np:NP646371.RAHUmwPUarBgh4r-25BQ5ue_JjlFIyXUhZgLHf7OvTXDk130_publicationInfo; a np:Nanopublication . dgn-np:NP646371.RAHUmwPUarBgh4r-25BQ5ue_JjlFIyXUhZgLHf7OvTXDk130_assertion a np:Assertion . dgn-np:NP646371.RAHUmwPUarBgh4r-25BQ5ue_JjlFIyXUhZgLHf7OvTXDk130_provenance a np:Provenance . dgn-np:NP646371.RAHUmwPUarBgh4r-25BQ5ue_JjlFIyXUhZgLHf7OvTXDk130_publicationInfo a np:PublicationInfo . } dgn-np:NP646371.RAHUmwPUarBgh4r-25BQ5ue_JjlFIyXUhZgLHf7OvTXDk130_assertion { miriam-gene:4292 a ncit:C16612 . lld:C0685938 a ncit:C7057 . dgn-gda:DGNa915036dcbbe8bd19ea98972db8bd8bf sio:SIO_000628 miriam-gene:4292, lld:C0685938; a sio:SIO_001121 . } dgn-np:NP646371.RAHUmwPUarBgh4r-25BQ5ue_JjlFIyXUhZgLHf7OvTXDk130_provenance { dgn-np:NP646371.RAHUmwPUarBgh4r-25BQ5ue_JjlFIyXUhZgLHf7OvTXDk130_assertion dcterms:description "[This work availably evaluated the functional consequences of some missense mutations not previously determined in the hMLH1 gene and might be useful for the clinical diagnosis of hereditary gastrointestinal cancer, especially in East Asians.]. 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:18094436; 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:NP646371.RAHUmwPUarBgh4r-25BQ5ue_JjlFIyXUhZgLHf7OvTXDk130_publicationInfo { this: dcterms:created "2016-05-13T12:46:38+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" . }