@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:NP702095.RAPd6tqlEfUVf8SR42zY3N_lCShFCuyqPsRNyjRS5bSXo130_head { this: np:hasAssertion dgn-np:NP702095.RAPd6tqlEfUVf8SR42zY3N_lCShFCuyqPsRNyjRS5bSXo130_assertion; np:hasProvenance dgn-np:NP702095.RAPd6tqlEfUVf8SR42zY3N_lCShFCuyqPsRNyjRS5bSXo130_provenance; np:hasPublicationInfo dgn-np:NP702095.RAPd6tqlEfUVf8SR42zY3N_lCShFCuyqPsRNyjRS5bSXo130_publicationInfo; a np:Nanopublication . dgn-np:NP702095.RAPd6tqlEfUVf8SR42zY3N_lCShFCuyqPsRNyjRS5bSXo130_assertion a np:Assertion . dgn-np:NP702095.RAPd6tqlEfUVf8SR42zY3N_lCShFCuyqPsRNyjRS5bSXo130_provenance a np:Provenance . dgn-np:NP702095.RAPd6tqlEfUVf8SR42zY3N_lCShFCuyqPsRNyjRS5bSXo130_publicationInfo a np:PublicationInfo . } dgn-np:NP702095.RAPd6tqlEfUVf8SR42zY3N_lCShFCuyqPsRNyjRS5bSXo130_assertion { miriam-gene:238 a ncit:C16612 . lld:C0027627 a ncit:C7057 . dgn-gda:DGN9f2114b31c0dbe18204359b1e7105b9f sio:SIO_000628 miriam-gene:238, lld:C0027627; a sio:SIO_001122 . } dgn-np:NP702095.RAPd6tqlEfUVf8SR42zY3N_lCShFCuyqPsRNyjRS5bSXo130_provenance { dgn-np:NP702095.RAPd6tqlEfUVf8SR42zY3N_lCShFCuyqPsRNyjRS5bSXo130_assertion dcterms:description "[ALK amplification or in-gene re-arrangements were found in 5% of NB tumours and mutations were found in 11%, including two novel not previously published mutations in the TKD, c.3733T>A and c.3735C>A. DNA mutations in the TKD and gene amplifications were only found in advanced large primary tumours or metastatic tumours, and correlated with the expression levels of ALK and downstream genes as well as other unfavourable features, and poor outcome.]. 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:18990089; 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:NP702095.RAPd6tqlEfUVf8SR42zY3N_lCShFCuyqPsRNyjRS5bSXo130_publicationInfo { this: dcterms:created "2016-05-13T12:47:03+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" . }