@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:NP816470.RAqBCeefDc94Wna4OiPA5lf2NFTSBeaJm3PBNN11iM0-4130_head { this: np:hasAssertion dgn-np:NP816470.RAqBCeefDc94Wna4OiPA5lf2NFTSBeaJm3PBNN11iM0-4130_assertion; np:hasProvenance dgn-np:NP816470.RAqBCeefDc94Wna4OiPA5lf2NFTSBeaJm3PBNN11iM0-4130_provenance; np:hasPublicationInfo dgn-np:NP816470.RAqBCeefDc94Wna4OiPA5lf2NFTSBeaJm3PBNN11iM0-4130_publicationInfo; a np:Nanopublication . dgn-np:NP816470.RAqBCeefDc94Wna4OiPA5lf2NFTSBeaJm3PBNN11iM0-4130_assertion a np:Assertion . dgn-np:NP816470.RAqBCeefDc94Wna4OiPA5lf2NFTSBeaJm3PBNN11iM0-4130_provenance a np:Provenance . dgn-np:NP816470.RAqBCeefDc94Wna4OiPA5lf2NFTSBeaJm3PBNN11iM0-4130_publicationInfo a np:PublicationInfo . } dgn-np:NP816470.RAqBCeefDc94Wna4OiPA5lf2NFTSBeaJm3PBNN11iM0-4130_assertion { miriam-gene:7903 a ncit:C16612 . lld:C0008928 a ncit:C7057 . dgn-gda:DGN279dee3742c8a3b3774b9bd0514e5385 sio:SIO_000628 miriam-gene:7903, lld:C0008928; a sio:SIO_001121 . } dgn-np:NP816470.RAqBCeefDc94Wna4OiPA5lf2NFTSBeaJm3PBNN11iM0-4130_provenance { dgn-np:NP816470.RAqBCeefDc94Wna4OiPA5lf2NFTSBeaJm3PBNN11iM0-4130_assertion dcterms:description "[Together these data show that variable loss of function due to alterations in the runt and PST domains of CBFA1 may give rise to clinical variability, including classic CCD, mild CCD and isolated primary dental anomalies.]. 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:10545612; 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:NP816470.RAqBCeefDc94Wna4OiPA5lf2NFTSBeaJm3PBNN11iM0-4130_publicationInfo { this: dcterms:created "2014-10-02T12:40:20+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" . }