@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:NP1054990.RAiu3ykC9kDadmPZk7vqd-ujO_HVnMhxC_352sUCGswMA130_head { this: np:hasAssertion dgn-np:NP1054990.RAiu3ykC9kDadmPZk7vqd-ujO_HVnMhxC_352sUCGswMA130_assertion; np:hasProvenance dgn-np:NP1054990.RAiu3ykC9kDadmPZk7vqd-ujO_HVnMhxC_352sUCGswMA130_provenance; np:hasPublicationInfo dgn-np:NP1054990.RAiu3ykC9kDadmPZk7vqd-ujO_HVnMhxC_352sUCGswMA130_publicationInfo; a np:Nanopublication . dgn-np:NP1054990.RAiu3ykC9kDadmPZk7vqd-ujO_HVnMhxC_352sUCGswMA130_assertion a np:Assertion . dgn-np:NP1054990.RAiu3ykC9kDadmPZk7vqd-ujO_HVnMhxC_352sUCGswMA130_provenance a np:Provenance . dgn-np:NP1054990.RAiu3ykC9kDadmPZk7vqd-ujO_HVnMhxC_352sUCGswMA130_publicationInfo a np:PublicationInfo . } dgn-np:NP1054990.RAiu3ykC9kDadmPZk7vqd-ujO_HVnMhxC_352sUCGswMA130_assertion { miriam-gene:999 a ncit:C16612 . lld:C0024623 a ncit:C7057 . dgn-gda:DGNe675246170ff71784038a169ec9a60e2 sio:SIO_000628 miriam-gene:999, lld:C0024623; a sio:SIO_001122 . } dgn-np:NP1054990.RAiu3ykC9kDadmPZk7vqd-ujO_HVnMhxC_352sUCGswMA130_provenance { dgn-np:NP1054990.RAiu3ykC9kDadmPZk7vqd-ujO_HVnMhxC_352sUCGswMA130_assertion dcterms:description "[Four novel CDH1 sequence alterations were identified in GC patients including a G>T transition 49 bp before the start codon; a three-nucleotide deletion, c.44_46del TGC; one missense mutation, c.604G>A (V202I); and one variation in the intron, c.1320+7A>G. In addition, polymorphism frequencies were observed for CDH1-164delT, -161C>A, -73A>C, c.48+6C>T, c.48+62_48+63delinsCGTGCCCCAGCCC, c.894C>T (A298A), c.1224G>A (A408A), c.1888C>G (L630V), c.2076T>C (A692A), and c.2253C>T (N751N) which is similar to the data reported in http://www.ncbi.nlm.nih.gov/projects/SNP/.]. 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:23431106; 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:NP1054990.RAiu3ykC9kDadmPZk7vqd-ujO_HVnMhxC_352sUCGswMA130_publicationInfo { this: dcterms:created "2016-05-13T12:49:44+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" . }