@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:NP232019.RAQsjdCecavb9Z5EpO8AJzLlWIQbO9LiXhjevRwmY1TvY130_head { this: np:hasAssertion dgn-np:NP232019.RAQsjdCecavb9Z5EpO8AJzLlWIQbO9LiXhjevRwmY1TvY130_assertion; np:hasProvenance dgn-np:NP232019.RAQsjdCecavb9Z5EpO8AJzLlWIQbO9LiXhjevRwmY1TvY130_provenance; np:hasPublicationInfo dgn-np:NP232019.RAQsjdCecavb9Z5EpO8AJzLlWIQbO9LiXhjevRwmY1TvY130_publicationInfo; a np:Nanopublication . dgn-np:NP232019.RAQsjdCecavb9Z5EpO8AJzLlWIQbO9LiXhjevRwmY1TvY130_assertion a np:Assertion . dgn-np:NP232019.RAQsjdCecavb9Z5EpO8AJzLlWIQbO9LiXhjevRwmY1TvY130_provenance a np:Provenance . dgn-np:NP232019.RAQsjdCecavb9Z5EpO8AJzLlWIQbO9LiXhjevRwmY1TvY130_publicationInfo a np:PublicationInfo . } dgn-np:NP232019.RAQsjdCecavb9Z5EpO8AJzLlWIQbO9LiXhjevRwmY1TvY130_assertion { miriam-gene:158584 a ncit:C16612 . lld:C0025362 a ncit:C7057 . dgn-gda:DGNc7ca2ffed1074a33f527a58727cee731 sio:SIO_000628 miriam-gene:158584, lld:C0025362; a sio:SIO_001121 . } dgn-np:NP232019.RAQsjdCecavb9Z5EpO8AJzLlWIQbO9LiXhjevRwmY1TvY130_provenance { dgn-np:NP232019.RAQsjdCecavb9Z5EpO8AJzLlWIQbO9LiXhjevRwmY1TvY130_assertion dcterms:description "[Fine-scale analysis of rare variants in XLID families leads us to propose four additional genes, PTCHD1, WDR13, FAAH2, and GSPT2, as candidates for XLID causation and the identification of further deletions and duplications affecting X chromosome genes but without apparent disease consequences.]. 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:20655035; 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:NP232019.RAQsjdCecavb9Z5EpO8AJzLlWIQbO9LiXhjevRwmY1TvY130_publicationInfo { this: dcterms:created "2014-10-02T12:34:10+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" . }