@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:NP554697.RAekLlpizQsnI4DUgUX2KA1Wz4pxQ_mYQqFCCgXeA-oOA130_head { this: np:hasAssertion dgn-np:NP554697.RAekLlpizQsnI4DUgUX2KA1Wz4pxQ_mYQqFCCgXeA-oOA130_assertion; np:hasProvenance dgn-np:NP554697.RAekLlpizQsnI4DUgUX2KA1Wz4pxQ_mYQqFCCgXeA-oOA130_provenance; np:hasPublicationInfo dgn-np:NP554697.RAekLlpizQsnI4DUgUX2KA1Wz4pxQ_mYQqFCCgXeA-oOA130_publicationInfo; a np:Nanopublication . dgn-np:NP554697.RAekLlpizQsnI4DUgUX2KA1Wz4pxQ_mYQqFCCgXeA-oOA130_assertion a np:Assertion . dgn-np:NP554697.RAekLlpizQsnI4DUgUX2KA1Wz4pxQ_mYQqFCCgXeA-oOA130_provenance a np:Provenance . dgn-np:NP554697.RAekLlpizQsnI4DUgUX2KA1Wz4pxQ_mYQqFCCgXeA-oOA130_publicationInfo a np:PublicationInfo . } dgn-np:NP554697.RAekLlpizQsnI4DUgUX2KA1Wz4pxQ_mYQqFCCgXeA-oOA130_assertion { miriam-gene:4595 a ncit:C16612 . lld:C1527249 a ncit:C7057 . dgn-gda:DGNc337f4bd23c943546017709ae1c680e8 sio:SIO_000628 miriam-gene:4595, lld:C1527249; a sio:SIO_001122 . } dgn-np:NP554697.RAekLlpizQsnI4DUgUX2KA1Wz4pxQ_mYQqFCCgXeA-oOA130_provenance { dgn-np:NP554697.RAekLlpizQsnI4DUgUX2KA1Wz4pxQ_mYQqFCCgXeA-oOA130_assertion dcterms:description "[Using Fisher's exact test and logistic regression, we compared the frequency of the known disease-causing MYH mutations Y165C, G382D and 466delE in 137 probands (117 cases with CRC and 20 cases diagnosed on the basis of adenomatous polyps only) from families with three or more CRCs but negative for mutations in the MMR genes and in 967 healthy controls with comparable ethnic backgrounds.]. 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:16774938; 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:NP554697.RAekLlpizQsnI4DUgUX2KA1Wz4pxQ_mYQqFCCgXeA-oOA130_publicationInfo { this: dcterms:created "2016-05-13T12:45:56+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" . }