@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:NP886001.RAEDBaLNkKRoA2sjkpV-Hf4SsDo1sLaWSkseP56IyTd4M130_head { this: np:hasAssertion dgn-np:NP886001.RAEDBaLNkKRoA2sjkpV-Hf4SsDo1sLaWSkseP56IyTd4M130_assertion; np:hasProvenance dgn-np:NP886001.RAEDBaLNkKRoA2sjkpV-Hf4SsDo1sLaWSkseP56IyTd4M130_provenance; np:hasPublicationInfo dgn-np:NP886001.RAEDBaLNkKRoA2sjkpV-Hf4SsDo1sLaWSkseP56IyTd4M130_publicationInfo; a np:Nanopublication . dgn-np:NP886001.RAEDBaLNkKRoA2sjkpV-Hf4SsDo1sLaWSkseP56IyTd4M130_assertion a np:Assertion . dgn-np:NP886001.RAEDBaLNkKRoA2sjkpV-Hf4SsDo1sLaWSkseP56IyTd4M130_provenance a np:Provenance . dgn-np:NP886001.RAEDBaLNkKRoA2sjkpV-Hf4SsDo1sLaWSkseP56IyTd4M130_publicationInfo a np:PublicationInfo . } dgn-np:NP886001.RAEDBaLNkKRoA2sjkpV-Hf4SsDo1sLaWSkseP56IyTd4M130_assertion { miriam-gene:545 a ncit:C16612 . lld:C0431350 a ncit:C7057 . dgn-gda:DGNa7471fb147a1989dc52055a51485cf57 sio:SIO_000628 miriam-gene:545, lld:C0431350; a sio:SIO_001121 . } dgn-np:NP886001.RAEDBaLNkKRoA2sjkpV-Hf4SsDo1sLaWSkseP56IyTd4M130_provenance { dgn-np:NP886001.RAEDBaLNkKRoA2sjkpV-Hf4SsDo1sLaWSkseP56IyTd4M130_assertion dcterms:description "[Although primary microcephaly can be caused by mutations in microcephalin (MCPH1), cells from patients with Seckel syndrome and MOPD II harbor mutations in ataxia telangiectasia and Rad3 related (ATR) or pericentrin (PCNT), leading to disturbed ATR signaling.]. 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:19546241; 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:NP886001.RAEDBaLNkKRoA2sjkpV-Hf4SsDo1sLaWSkseP56IyTd4M130_publicationInfo { this: dcterms:created "2014-10-02T12:41:01+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" . }