@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:NP549393.RAjPgC0JH1nLgr6pXd5aRX9wAmeOTg9E1G3_Tu_CTSpss130_head { this: np:hasAssertion dgn-np:NP549393.RAjPgC0JH1nLgr6pXd5aRX9wAmeOTg9E1G3_Tu_CTSpss130_assertion; np:hasProvenance dgn-np:NP549393.RAjPgC0JH1nLgr6pXd5aRX9wAmeOTg9E1G3_Tu_CTSpss130_provenance; np:hasPublicationInfo dgn-np:NP549393.RAjPgC0JH1nLgr6pXd5aRX9wAmeOTg9E1G3_Tu_CTSpss130_publicationInfo; a np:Nanopublication . dgn-np:NP549393.RAjPgC0JH1nLgr6pXd5aRX9wAmeOTg9E1G3_Tu_CTSpss130_assertion a np:Assertion . dgn-np:NP549393.RAjPgC0JH1nLgr6pXd5aRX9wAmeOTg9E1G3_Tu_CTSpss130_provenance a np:Provenance . dgn-np:NP549393.RAjPgC0JH1nLgr6pXd5aRX9wAmeOTg9E1G3_Tu_CTSpss130_publicationInfo a np:PublicationInfo . } dgn-np:NP549393.RAjPgC0JH1nLgr6pXd5aRX9wAmeOTg9E1G3_Tu_CTSpss130_assertion { miriam-gene:6910 a ncit:C16612 . lld:C0265264 a ncit:C7057 . dgn-gda:DGNb511fa5730c05f814e8c47b3c54d00dc sio:SIO_000628 miriam-gene:6910, lld:C0265264; a sio:SIO_001121 . } dgn-np:NP549393.RAjPgC0JH1nLgr6pXd5aRX9wAmeOTg9E1G3_Tu_CTSpss130_provenance { dgn-np:NP549393.RAjPgC0JH1nLgr6pXd5aRX9wAmeOTg9E1G3_Tu_CTSpss130_assertion dcterms:description "[Our identification of TBX5 mutations has enabled us to offer genetic testing for diagnosis of HOS in patients and also to perform preimplantation genetic diagnosis on blastocysts for couples desiring to have a child unaffected by HOS.]. 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:16691575; 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:NP549393.RAjPgC0JH1nLgr6pXd5aRX9wAmeOTg9E1G3_Tu_CTSpss130_publicationInfo { this: dcterms:created "2016-05-13T12:45:54+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" . }