@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:NP223144.RAwUFgJO31TSbaQrS0dioRMwq41b_rix1Kavp_pirV2hc130_head { this: np:hasAssertion dgn-np:NP223144.RAwUFgJO31TSbaQrS0dioRMwq41b_rix1Kavp_pirV2hc130_assertion; np:hasProvenance dgn-np:NP223144.RAwUFgJO31TSbaQrS0dioRMwq41b_rix1Kavp_pirV2hc130_provenance; np:hasPublicationInfo dgn-np:NP223144.RAwUFgJO31TSbaQrS0dioRMwq41b_rix1Kavp_pirV2hc130_publicationInfo; a np:Nanopublication . dgn-np:NP223144.RAwUFgJO31TSbaQrS0dioRMwq41b_rix1Kavp_pirV2hc130_assertion a np:Assertion . dgn-np:NP223144.RAwUFgJO31TSbaQrS0dioRMwq41b_rix1Kavp_pirV2hc130_provenance a np:Provenance . dgn-np:NP223144.RAwUFgJO31TSbaQrS0dioRMwq41b_rix1Kavp_pirV2hc130_publicationInfo a np:PublicationInfo . } dgn-np:NP223144.RAwUFgJO31TSbaQrS0dioRMwq41b_rix1Kavp_pirV2hc130_assertion { miriam-gene:24140 a ncit:C16612 . lld:C3714756 a ncit:C7057 . dgn-gda:DGN7703818421384a0c774ccd2a039f9b8a sio:SIO_000628 miriam-gene:24140, lld:C3714756; a sio:SIO_001122 . } dgn-np:NP223144.RAwUFgJO31TSbaQrS0dioRMwq41b_rix1Kavp_pirV2hc130_provenance { dgn-np:NP223144.RAwUFgJO31TSbaQrS0dioRMwq41b_rix1Kavp_pirV2hc130_assertion dcterms:description "[A 50kb deletion at Xp11.23 including the two genes, SLC38A5 and FTSJ1 was found in 3 brothers with moderate to severe mental retardation.]. 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:17333282; prov:wasDerivedFrom dgn-void:lhgdn-20090331; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:lhgdn-20090331 pav:importedOn "2009-03-31"^^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:NP223144.RAwUFgJO31TSbaQrS0dioRMwq41b_rix1Kavp_pirV2hc130_publicationInfo { this: dcterms:created "2016-05-13T12:43:27+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" . }