@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:NP155279.RA4br8Q433nz2KRoysJ3qWWO58Jy3ZGNI1L2KKBR703e8130_head { this: np:hasAssertion dgn-np:NP155279.RA4br8Q433nz2KRoysJ3qWWO58Jy3ZGNI1L2KKBR703e8130_assertion; np:hasProvenance dgn-np:NP155279.RA4br8Q433nz2KRoysJ3qWWO58Jy3ZGNI1L2KKBR703e8130_provenance; np:hasPublicationInfo dgn-np:NP155279.RA4br8Q433nz2KRoysJ3qWWO58Jy3ZGNI1L2KKBR703e8130_publicationInfo; a np:Nanopublication . dgn-np:NP155279.RA4br8Q433nz2KRoysJ3qWWO58Jy3ZGNI1L2KKBR703e8130_assertion a np:Assertion . dgn-np:NP155279.RA4br8Q433nz2KRoysJ3qWWO58Jy3ZGNI1L2KKBR703e8130_provenance a np:Provenance . dgn-np:NP155279.RA4br8Q433nz2KRoysJ3qWWO58Jy3ZGNI1L2KKBR703e8130_publicationInfo a np:PublicationInfo . } dgn-np:NP155279.RA4br8Q433nz2KRoysJ3qWWO58Jy3ZGNI1L2KKBR703e8130_assertion { miriam-gene:4853 a ncit:C16612 . lld:C0023434 a ncit:C7057 . dgn-gda:DGN9a6db020f2096148894529be4e3b99c3 sio:SIO_000628 miriam-gene:4853, lld:C0023434; a sio:SIO_001121 . } dgn-np:NP155279.RA4br8Q433nz2KRoysJ3qWWO58Jy3ZGNI1L2KKBR703e8130_provenance { dgn-np:NP155279.RA4br8Q433nz2KRoysJ3qWWO58Jy3ZGNI1L2KKBR703e8130_assertion dcterms:description "[A further important application of RNA-sequencing was for mutation detection and revealed 16–30 missense mutations per sample; notably many of these changes were found in genes with a strong potential for involvement in CLL pathogenesis, e.g., ATM and NOTCH2.This study not only demonstrates the effectiveness of RNA-sequencing for identifying mutations, quantifying gene expression and detecting splicing events, but also highlights the potential such global approaches have to significantly advance our understanding of the molecular mechanisms behind CLL development.]. 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:22674506; 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:NP155279.RA4br8Q433nz2KRoysJ3qWWO58Jy3ZGNI1L2KKBR703e8130_publicationInfo { this: dcterms:created "2014-10-02T12:33:22+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" . }