@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:NP412457.RAD71cU9mweBZPDIFvaLAgH31cqTeWMWdEUS0xUrLoMrk130_head { this: np:hasAssertion dgn-np:NP412457.RAD71cU9mweBZPDIFvaLAgH31cqTeWMWdEUS0xUrLoMrk130_assertion; np:hasProvenance dgn-np:NP412457.RAD71cU9mweBZPDIFvaLAgH31cqTeWMWdEUS0xUrLoMrk130_provenance; np:hasPublicationInfo dgn-np:NP412457.RAD71cU9mweBZPDIFvaLAgH31cqTeWMWdEUS0xUrLoMrk130_publicationInfo; a np:Nanopublication . dgn-np:NP412457.RAD71cU9mweBZPDIFvaLAgH31cqTeWMWdEUS0xUrLoMrk130_assertion a np:Assertion . dgn-np:NP412457.RAD71cU9mweBZPDIFvaLAgH31cqTeWMWdEUS0xUrLoMrk130_provenance a np:Provenance . dgn-np:NP412457.RAD71cU9mweBZPDIFvaLAgH31cqTeWMWdEUS0xUrLoMrk130_publicationInfo a np:PublicationInfo . } dgn-np:NP412457.RAD71cU9mweBZPDIFvaLAgH31cqTeWMWdEUS0xUrLoMrk130_assertion { miriam-gene:2477 a ncit:C16612 . lld:C0019247 a ncit:C7057 . dgn-gda:DGN26da4c9a51d76e718d1460c8f2c3067e sio:SIO_000628 miriam-gene:2477, lld:C0019247; a sio:SIO_001121 . } dgn-np:NP412457.RAD71cU9mweBZPDIFvaLAgH31cqTeWMWdEUS0xUrLoMrk130_provenance { dgn-np:NP412457.RAD71cU9mweBZPDIFvaLAgH31cqTeWMWdEUS0xUrLoMrk130_assertion dcterms:description "[Fragile X syndrome linked to the FRAXA locus is the most common inherited genetic disease accounting for mental retardation and is usually caused by the expansion of an unstable CGG repeat in the first exon of the FMR1 gene on the X chromosome.]. 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:12215255; 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:NP412457.RAD71cU9mweBZPDIFvaLAgH31cqTeWMWdEUS0xUrLoMrk130_publicationInfo { this: dcterms:created "2015-08-25T14:41:40+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" . }