@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:NP319030.RAXP-H0Fdp2QDNvY0bSuqe_8TBbg8OHoRMs7k2vE1HAQU130_head { this: np:hasAssertion dgn-np:NP319030.RAXP-H0Fdp2QDNvY0bSuqe_8TBbg8OHoRMs7k2vE1HAQU130_assertion; np:hasProvenance dgn-np:NP319030.RAXP-H0Fdp2QDNvY0bSuqe_8TBbg8OHoRMs7k2vE1HAQU130_provenance; np:hasPublicationInfo dgn-np:NP319030.RAXP-H0Fdp2QDNvY0bSuqe_8TBbg8OHoRMs7k2vE1HAQU130_publicationInfo; a np:Nanopublication . dgn-np:NP319030.RAXP-H0Fdp2QDNvY0bSuqe_8TBbg8OHoRMs7k2vE1HAQU130_assertion a np:Assertion . dgn-np:NP319030.RAXP-H0Fdp2QDNvY0bSuqe_8TBbg8OHoRMs7k2vE1HAQU130_provenance a np:Provenance . dgn-np:NP319030.RAXP-H0Fdp2QDNvY0bSuqe_8TBbg8OHoRMs7k2vE1HAQU130_publicationInfo a np:PublicationInfo . } dgn-np:NP319030.RAXP-H0Fdp2QDNvY0bSuqe_8TBbg8OHoRMs7k2vE1HAQU130_assertion { miriam-gene:10721 a ncit:C16612 . lld:C0043346 a ncit:C7057 . dgn-gda:DGN82277bd6727ab4baa14035ff924c8932 sio:SIO_000628 miriam-gene:10721, lld:C0043346; a sio:SIO_001121 . } dgn-np:NP319030.RAXP-H0Fdp2QDNvY0bSuqe_8TBbg8OHoRMs7k2vE1HAQU130_provenance { dgn-np:NP319030.RAXP-H0Fdp2QDNvY0bSuqe_8TBbg8OHoRMs7k2vE1HAQU130_assertion dcterms:description "[To determine whether DNA polymerase eta plays a role in the hypermutation of immunoglobulin variable genes, we examined the frequency and pattern of substitutions in variable VH6 genes from the peripheral blood lymphocytes of three patients with xeroderma pigmentosum variant disease, whose polymerase eta had genetic defects.]. 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:11376341; 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:NP319030.RAXP-H0Fdp2QDNvY0bSuqe_8TBbg8OHoRMs7k2vE1HAQU130_publicationInfo { this: dcterms:created "2016-05-13T12:44:10+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" . }