@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1170664.RA7pzTHnBCD7QWuJWQoPhzVycvAr_l9GbG77oelfeldDM
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP1170664.RA7pzTHnBCD7QWuJWQoPhzVycvAr_l9GbG77oelfeldDM130_head
{
this:
np:hasAssertion
dgn-np:NP1170664.RA7pzTHnBCD7QWuJWQoPhzVycvAr_l9GbG77oelfeldDM130_assertion
;
np:hasProvenance
dgn-np:NP1170664.RA7pzTHnBCD7QWuJWQoPhzVycvAr_l9GbG77oelfeldDM130_provenance
;
np:hasPublicationInfo
dgn-np:NP1170664.RA7pzTHnBCD7QWuJWQoPhzVycvAr_l9GbG77oelfeldDM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1170664.RA7pzTHnBCD7QWuJWQoPhzVycvAr_l9GbG77oelfeldDM130_assertion
a
np:Assertion
.
dgn-np:NP1170664.RA7pzTHnBCD7QWuJWQoPhzVycvAr_l9GbG77oelfeldDM130_provenance
a
np:Provenance
.
dgn-np:NP1170664.RA7pzTHnBCD7QWuJWQoPhzVycvAr_l9GbG77oelfeldDM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1170664.RA7pzTHnBCD7QWuJWQoPhzVycvAr_l9GbG77oelfeldDM130_assertion
{
miriam-gene:90
a
ncit:C16612
.
lld:C1336733
a
ncit:C7057
.
dgn-gda:DGNab563c3b531e56dcb2246c84fcd984cd
sio:SIO_000628
miriam-gene:90
,
lld:C1336733
;
a
sio:SIO_001122
.
}
dgn-np:NP1170664.RA7pzTHnBCD7QWuJWQoPhzVycvAr_l9GbG77oelfeldDM130_provenance
{
dgn-np:NP1170664.RA7pzTHnBCD7QWuJWQoPhzVycvAr_l9GbG77oelfeldDM130_assertion
dcterms:description
"[Gain-of-function mutations in ACVR1 occur in tumors of the pons in conjunction with histone H3.1 p.Lys27Met substitution, whereas FGFR1 mutations or fusions occur in thalamic tumors associated with histone H3.3 p.Lys27Met substitution.]. 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:24705250
;
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:NP1170664.RA7pzTHnBCD7QWuJWQoPhzVycvAr_l9GbG77oelfeldDM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:36+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}