@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:NP747047.RA2Z9gzpJLZbeK479t1_CSLkIMeLeUq3_DyZwJA7o_cCY130_head { this: np:hasAssertion dgn-np:NP747047.RA2Z9gzpJLZbeK479t1_CSLkIMeLeUq3_DyZwJA7o_cCY130_assertion; np:hasProvenance dgn-np:NP747047.RA2Z9gzpJLZbeK479t1_CSLkIMeLeUq3_DyZwJA7o_cCY130_provenance; np:hasPublicationInfo dgn-np:NP747047.RA2Z9gzpJLZbeK479t1_CSLkIMeLeUq3_DyZwJA7o_cCY130_publicationInfo; a np:Nanopublication . dgn-np:NP747047.RA2Z9gzpJLZbeK479t1_CSLkIMeLeUq3_DyZwJA7o_cCY130_assertion a np:Assertion . dgn-np:NP747047.RA2Z9gzpJLZbeK479t1_CSLkIMeLeUq3_DyZwJA7o_cCY130_provenance a np:Provenance . dgn-np:NP747047.RA2Z9gzpJLZbeK479t1_CSLkIMeLeUq3_DyZwJA7o_cCY130_publicationInfo a np:PublicationInfo . } dgn-np:NP747047.RA2Z9gzpJLZbeK479t1_CSLkIMeLeUq3_DyZwJA7o_cCY130_assertion { miriam-gene:501 a ncit:C16612 . lld:C1336708 a ncit:C7057 . dgn-gda:DGN217bf88550415e8995f794eb7f35afd7 sio:SIO_000628 miriam-gene:501, lld:C1336708; a sio:SIO_001121 . } dgn-np:NP747047.RA2Z9gzpJLZbeK479t1_CSLkIMeLeUq3_DyZwJA7o_cCY130_provenance { dgn-np:NP747047.RA2Z9gzpJLZbeK479t1_CSLkIMeLeUq3_DyZwJA7o_cCY130_assertion dcterms:description "[Most variants were detected in the general population, but functional studies showed that all these mutations reduced PDE activity, and that PDE11A protein expression was decreased (or absent) in TGCT samples from 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:19549888; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP747047.RA2Z9gzpJLZbeK479t1_CSLkIMeLeUq3_DyZwJA7o_cCY130_publicationInfo { this: dcterms:created "2016-05-13T12:47:23+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" . }