@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP520883.RA7EO_ZLQnS6mcSzXobwubZX3JPn1PRvQP73W6BcJYt5k
> .
@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:NP520883.RA7EO_ZLQnS6mcSzXobwubZX3JPn1PRvQP73W6BcJYt5k130_head
{
this:
np:hasAssertion
dgn-np:NP520883.RA7EO_ZLQnS6mcSzXobwubZX3JPn1PRvQP73W6BcJYt5k130_assertion
;
np:hasProvenance
dgn-np:NP520883.RA7EO_ZLQnS6mcSzXobwubZX3JPn1PRvQP73W6BcJYt5k130_provenance
;
np:hasPublicationInfo
dgn-np:NP520883.RA7EO_ZLQnS6mcSzXobwubZX3JPn1PRvQP73W6BcJYt5k130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP520883.RA7EO_ZLQnS6mcSzXobwubZX3JPn1PRvQP73W6BcJYt5k130_assertion
a
np:Assertion
.
dgn-np:NP520883.RA7EO_ZLQnS6mcSzXobwubZX3JPn1PRvQP73W6BcJYt5k130_provenance
a
np:Provenance
.
dgn-np:NP520883.RA7EO_ZLQnS6mcSzXobwubZX3JPn1PRvQP73W6BcJYt5k130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP520883.RA7EO_ZLQnS6mcSzXobwubZX3JPn1PRvQP73W6BcJYt5k130_assertion
{
miriam-gene:2261
a
ncit:C16612
.
lld:C0263661
a
ncit:C7057
.
dgn-gda:DGN12ac7d21298020363fc8d2612c6a4f1b
sio:SIO_000628
miriam-gene:2261
,
lld:C0263661
;
a
sio:SIO_001121
.
}
dgn-np:NP520883.RA7EO_ZLQnS6mcSzXobwubZX3JPn1PRvQP73W6BcJYt5k130_provenance
{
dgn-np:NP520883.RA7EO_ZLQnS6mcSzXobwubZX3JPn1PRvQP73W6BcJYt5k130_assertion
dcterms:description
"[Mutation of Lys650-->Glu in the activation loop of the FGFR3 kinase domain causes the lethal human skeletal disorder thanatophoric dysplasia type II (TDII) and is also found in patients with multiple myeloma, bladder and cervical carcinomas.]. 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:10918587
;
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:NP520883.RA7EO_ZLQnS6mcSzXobwubZX3JPn1PRvQP73W6BcJYt5k130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:10+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" .
}