@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP52366.RAQ1bKn1J-Dl7EnZVqPyZAWc-nSsO6icSuZXeKcHQHp-M
> .
@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:NP52366.RAQ1bKn1J-Dl7EnZVqPyZAWc-nSsO6icSuZXeKcHQHp-M130_head
{
this:
np:hasAssertion
dgn-np:NP52366.RAQ1bKn1J-Dl7EnZVqPyZAWc-nSsO6icSuZXeKcHQHp-M130_assertion
;
np:hasProvenance
dgn-np:NP52366.RAQ1bKn1J-Dl7EnZVqPyZAWc-nSsO6icSuZXeKcHQHp-M130_provenance
;
np:hasPublicationInfo
dgn-np:NP52366.RAQ1bKn1J-Dl7EnZVqPyZAWc-nSsO6icSuZXeKcHQHp-M130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP52366.RAQ1bKn1J-Dl7EnZVqPyZAWc-nSsO6icSuZXeKcHQHp-M130_assertion
a
np:Assertion
.
dgn-np:NP52366.RAQ1bKn1J-Dl7EnZVqPyZAWc-nSsO6icSuZXeKcHQHp-M130_provenance
a
np:Provenance
.
dgn-np:NP52366.RAQ1bKn1J-Dl7EnZVqPyZAWc-nSsO6icSuZXeKcHQHp-M130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP52366.RAQ1bKn1J-Dl7EnZVqPyZAWc-nSsO6icSuZXeKcHQHp-M130_assertion
{
miriam-gene:5925
a
ncit:C16612
.
lld:C0035335
a
ncit:C7057
.
dgn-gda:DGN087d1d94f8218bc603683ac1eb98b853
sio:SIO_000628
miriam-gene:5925
,
lld:C0035335
;
a
sio:SIO_001122
.
}
dgn-np:NP52366.RAQ1bKn1J-Dl7EnZVqPyZAWc-nSsO6icSuZXeKcHQHp-M130_provenance
{
dgn-np:NP52366.RAQ1bKn1J-Dl7EnZVqPyZAWc-nSsO6icSuZXeKcHQHp-M130_assertion
dcterms:description
"[The molecular scanning of RB1 in search of germ line mutations in 213 retinoblastoma patients from Spain, Cuba, Colombia and Serbia, has led to the detection of 106 mutations whose knowledge is important for genetic counselling and characterization of phenotypic-genotypic relations.]. 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:16595082
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP52366.RAQ1bKn1J-Dl7EnZVqPyZAWc-nSsO6icSuZXeKcHQHp-M130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:24+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" .
}