@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:NP558198.RAosD8-Y857zCHQaIwk5il08QAzg8-RBELGTEHtlqYTOg130_head { this: np:hasAssertion dgn-np:NP558198.RAosD8-Y857zCHQaIwk5il08QAzg8-RBELGTEHtlqYTOg130_assertion; np:hasProvenance dgn-np:NP558198.RAosD8-Y857zCHQaIwk5il08QAzg8-RBELGTEHtlqYTOg130_provenance; np:hasPublicationInfo dgn-np:NP558198.RAosD8-Y857zCHQaIwk5il08QAzg8-RBELGTEHtlqYTOg130_publicationInfo; a np:Nanopublication . dgn-np:NP558198.RAosD8-Y857zCHQaIwk5il08QAzg8-RBELGTEHtlqYTOg130_assertion a np:Assertion . dgn-np:NP558198.RAosD8-Y857zCHQaIwk5il08QAzg8-RBELGTEHtlqYTOg130_provenance a np:Provenance . dgn-np:NP558198.RAosD8-Y857zCHQaIwk5il08QAzg8-RBELGTEHtlqYTOg130_publicationInfo a np:PublicationInfo . } dgn-np:NP558198.RAosD8-Y857zCHQaIwk5il08QAzg8-RBELGTEHtlqYTOg130_assertion { miriam-gene:4292 a ncit:C16612 . lld:C0027126 a ncit:C7057 . dgn-gda:DGNe486158c84384e4fde4e8cf08aa00e66 sio:SIO_000628 miriam-gene:4292, lld:C0027126; a sio:SIO_001121 . } dgn-np:NP558198.RAosD8-Y857zCHQaIwk5il08QAzg8-RBELGTEHtlqYTOg130_provenance { dgn-np:NP558198.RAosD8-Y857zCHQaIwk5il08QAzg8-RBELGTEHtlqYTOg130_assertion dcterms:description "[PCR and Southern analysis of the triplet repeat regions of the DM and fragile X mental retardation (FRAXA) loci in cell lines HTC116 and LoVo, which contain mutations in both alleles of the hMLH1 and hMSH2 genes, respectively, indicated that the size of the endogenous (CTG)n and (CGG)n tracts fall within the range observed in the normal population.]. 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:8698331; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP558198.RAosD8-Y857zCHQaIwk5il08QAzg8-RBELGTEHtlqYTOg130_publicationInfo { this: dcterms:created "2015-08-25T14:43:12+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }