@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP627643.RAFz2oLgrVIgCPoP2FJ97Zq-M5xr1gQlj3n0bff0RZCFw
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP627643.RAFz2oLgrVIgCPoP2FJ97Zq-M5xr1gQlj3n0bff0RZCFw130_head
{
this:
np:hasAssertion
dgn-np:NP627643.RAFz2oLgrVIgCPoP2FJ97Zq-M5xr1gQlj3n0bff0RZCFw130_assertion
;
np:hasProvenance
dgn-np:NP627643.RAFz2oLgrVIgCPoP2FJ97Zq-M5xr1gQlj3n0bff0RZCFw130_provenance
;
np:hasPublicationInfo
dgn-np:NP627643.RAFz2oLgrVIgCPoP2FJ97Zq-M5xr1gQlj3n0bff0RZCFw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP627643.RAFz2oLgrVIgCPoP2FJ97Zq-M5xr1gQlj3n0bff0RZCFw130_assertion
a
np:Assertion
.
dgn-np:NP627643.RAFz2oLgrVIgCPoP2FJ97Zq-M5xr1gQlj3n0bff0RZCFw130_provenance
a
np:Provenance
.
dgn-np:NP627643.RAFz2oLgrVIgCPoP2FJ97Zq-M5xr1gQlj3n0bff0RZCFw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP627643.RAFz2oLgrVIgCPoP2FJ97Zq-M5xr1gQlj3n0bff0RZCFw130_assertion
{
miriam-gene:238
a
ncit:C16612
.
lld:C0027627
a
ncit:C7057
.
dgn-gda:DGNc0447da3115e2fd63e41dd9378ce324b
sio:SIO_000628
miriam-gene:238
,
lld:C0027627
;
a
sio:SIO_001121
.
}
dgn-np:NP627643.RAFz2oLgrVIgCPoP2FJ97Zq-M5xr1gQlj3n0bff0RZCFw130_provenance
{
dgn-np:NP627643.RAFz2oLgrVIgCPoP2FJ97Zq-M5xr1gQlj3n0bff0RZCFw130_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-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:NP627643.RAFz2oLgrVIgCPoP2FJ97Zq-M5xr1gQlj3n0bff0RZCFw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:18+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}