@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:NP620217.RAFPxNOWRYhtJYpXo5Oo6M5TfC47lnNZdTKzFEJ3Npjik130_head { this: np:hasAssertion dgn-np:NP620217.RAFPxNOWRYhtJYpXo5Oo6M5TfC47lnNZdTKzFEJ3Npjik130_assertion; np:hasProvenance dgn-np:NP620217.RAFPxNOWRYhtJYpXo5Oo6M5TfC47lnNZdTKzFEJ3Npjik130_provenance; np:hasPublicationInfo dgn-np:NP620217.RAFPxNOWRYhtJYpXo5Oo6M5TfC47lnNZdTKzFEJ3Npjik130_publicationInfo; a np:Nanopublication . dgn-np:NP620217.RAFPxNOWRYhtJYpXo5Oo6M5TfC47lnNZdTKzFEJ3Npjik130_assertion a np:Assertion . dgn-np:NP620217.RAFPxNOWRYhtJYpXo5Oo6M5TfC47lnNZdTKzFEJ3Npjik130_provenance a np:Provenance . dgn-np:NP620217.RAFPxNOWRYhtJYpXo5Oo6M5TfC47lnNZdTKzFEJ3Npjik130_publicationInfo a np:PublicationInfo . } dgn-np:NP620217.RAFPxNOWRYhtJYpXo5Oo6M5TfC47lnNZdTKzFEJ3Npjik130_assertion { miriam-gene:2837 a ncit:C16612 . lld:C0025362 a ncit:C7057 . dgn-gda:DGNd8d42c139d9fda3c7ebd1885a1c317f6 sio:SIO_000628 miriam-gene:2837, lld:C0025362; a sio:SIO_001121 . } dgn-np:NP620217.RAFPxNOWRYhtJYpXo5Oo6M5TfC47lnNZdTKzFEJ3Npjik130_provenance { dgn-np:NP620217.RAFPxNOWRYhtJYpXo5Oo6M5TfC47lnNZdTKzFEJ3Npjik130_assertion dcterms:description "[It occurs due to CGG expansion of more than 55 repeats at the 5'UTR (Xq 27.3), which is associated with gene silence resulting in mental retardation in males, and POF in female carriers.]. 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:19465673; 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:NP620217.RAFPxNOWRYhtJYpXo5Oo6M5TfC47lnNZdTKzFEJ3Npjik130_publicationInfo { this: dcterms:created "2014-10-02T12:38:14+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" . }