@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:NP864167.RAppi_qwzuc4M0xBUFe4L_KJVi2H0F1g5K-m-VpetI_qM130_head { this: np:hasAssertion dgn-np:NP864167.RAppi_qwzuc4M0xBUFe4L_KJVi2H0F1g5K-m-VpetI_qM130_assertion; np:hasProvenance dgn-np:NP864167.RAppi_qwzuc4M0xBUFe4L_KJVi2H0F1g5K-m-VpetI_qM130_provenance; np:hasPublicationInfo dgn-np:NP864167.RAppi_qwzuc4M0xBUFe4L_KJVi2H0F1g5K-m-VpetI_qM130_publicationInfo; a np:Nanopublication . dgn-np:NP864167.RAppi_qwzuc4M0xBUFe4L_KJVi2H0F1g5K-m-VpetI_qM130_assertion a np:Assertion . dgn-np:NP864167.RAppi_qwzuc4M0xBUFe4L_KJVi2H0F1g5K-m-VpetI_qM130_provenance a np:Provenance . dgn-np:NP864167.RAppi_qwzuc4M0xBUFe4L_KJVi2H0F1g5K-m-VpetI_qM130_publicationInfo a np:PublicationInfo . } dgn-np:NP864167.RAppi_qwzuc4M0xBUFe4L_KJVi2H0F1g5K-m-VpetI_qM130_assertion { miriam-gene:25885 a ncit:C16612 . lld:C0175702 a ncit:C7057 . dgn-gda:DGNee02f713aa567c0cd2e1d5b48353b08a sio:SIO_000628 miriam-gene:25885, lld:C0175702; a sio:SIO_001121 . } dgn-np:NP864167.RAppi_qwzuc4M0xBUFe4L_KJVi2H0F1g5K-m-VpetI_qM130_provenance { dgn-np:NP864167.RAppi_qwzuc4M0xBUFe4L_KJVi2H0F1g5K-m-VpetI_qM130_assertion dcterms:description "[Here, we examined ATR-pathway function in cell lines from three haploinsufficient contiguous gene-deletion disorders--a subset of blepharophimosis-ptosis-epicanthus inversus syndrome, Miller-Dieker lissencephaly syndrome, and Williams-Beuren syndrome--in which the deleted region encompasses ATR, RPA1, and RFC2, respectively.]. 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:17564965; 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:NP864167.RAppi_qwzuc4M0xBUFe4L_KJVi2H0F1g5K-m-VpetI_qM130_publicationInfo { this: dcterms:created "2014-10-02T12:40:48+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" . }