@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:NP897447.RAcv4cFvQyAt7nycjEAYsPbu_pmHYsQq9snlgC31CmcvQ130_head { this: np:hasAssertion dgn-np:NP897447.RAcv4cFvQyAt7nycjEAYsPbu_pmHYsQq9snlgC31CmcvQ130_assertion; np:hasProvenance dgn-np:NP897447.RAcv4cFvQyAt7nycjEAYsPbu_pmHYsQq9snlgC31CmcvQ130_provenance; np:hasPublicationInfo dgn-np:NP897447.RAcv4cFvQyAt7nycjEAYsPbu_pmHYsQq9snlgC31CmcvQ130_publicationInfo; a np:Nanopublication . dgn-np:NP897447.RAcv4cFvQyAt7nycjEAYsPbu_pmHYsQq9snlgC31CmcvQ130_assertion a np:Assertion . dgn-np:NP897447.RAcv4cFvQyAt7nycjEAYsPbu_pmHYsQq9snlgC31CmcvQ130_provenance a np:Provenance . dgn-np:NP897447.RAcv4cFvQyAt7nycjEAYsPbu_pmHYsQq9snlgC31CmcvQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP897447.RAcv4cFvQyAt7nycjEAYsPbu_pmHYsQq9snlgC31CmcvQ130_assertion { miriam-gene:845 a ncit:C16612 . lld:C1631597 a ncit:C7057 . dgn-gda:DGN8ebcc351043d1b118514c4d762b9c2af sio:SIO_000628 miriam-gene:845, lld:C1631597; a sio:SIO_001121 . } dgn-np:NP897447.RAcv4cFvQyAt7nycjEAYsPbu_pmHYsQq9snlgC31CmcvQ130_provenance { dgn-np:NP897447.RAcv4cFvQyAt7nycjEAYsPbu_pmHYsQq9snlgC31CmcvQ130_assertion dcterms:description "[Moreover, our report of the first splicing abnormalities in CASQ2 caused by intronic mutation or synonymous change underlines the absolute necessity to perform extensive molecular analysis for genetic diagnosis and counseling of CPVT.]. 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:21618644; 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:NP897447.RAcv4cFvQyAt7nycjEAYsPbu_pmHYsQq9snlgC31CmcvQ130_publicationInfo { this: dcterms:created "2016-05-13T12:48:31+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" . }