@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:NP312976.RAdomAqp1K1EortBVaFU8x9dx32ymf-vb1S_BTd-PNTcM130_head { this: np:hasAssertion dgn-np:NP312976.RAdomAqp1K1EortBVaFU8x9dx32ymf-vb1S_BTd-PNTcM130_assertion; np:hasProvenance dgn-np:NP312976.RAdomAqp1K1EortBVaFU8x9dx32ymf-vb1S_BTd-PNTcM130_provenance; np:hasPublicationInfo dgn-np:NP312976.RAdomAqp1K1EortBVaFU8x9dx32ymf-vb1S_BTd-PNTcM130_publicationInfo; a np:Nanopublication . dgn-np:NP312976.RAdomAqp1K1EortBVaFU8x9dx32ymf-vb1S_BTd-PNTcM130_assertion a np:Assertion . dgn-np:NP312976.RAdomAqp1K1EortBVaFU8x9dx32ymf-vb1S_BTd-PNTcM130_provenance a np:Provenance . dgn-np:NP312976.RAdomAqp1K1EortBVaFU8x9dx32ymf-vb1S_BTd-PNTcM130_publicationInfo a np:PublicationInfo . } dgn-np:NP312976.RAdomAqp1K1EortBVaFU8x9dx32ymf-vb1S_BTd-PNTcM130_assertion { miriam-gene:4595 a ncit:C16612 . lld:C2674616 a ncit:C7057 . dgn-gda:DGN8254d007ea622efdea3b2d2a213c4eb1 sio:SIO_000628 miriam-gene:4595, lld:C2674616; a sio:SIO_001121 . } dgn-np:NP312976.RAdomAqp1K1EortBVaFU8x9dx32ymf-vb1S_BTd-PNTcM130_provenance { dgn-np:NP312976.RAdomAqp1K1EortBVaFU8x9dx32ymf-vb1S_BTd-PNTcM130_assertion dcterms:description "[In contrast to Lynch syndrome, CMMR-D syndrome is exceptionally rare, onset typically occurs in infancy or early childhood and, as described in this report, may also present with colonic polyposis suggestive of attenuated familial adenomatous polyposis (AFAP) or MUTYH associated polyposis (MAP).]. 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:21039432; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP312976.RAdomAqp1K1EortBVaFU8x9dx32ymf-vb1S_BTd-PNTcM130_publicationInfo { this: dcterms:created "2014-10-02T12:34:59+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }