@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP525854.RAYv8_tly5P0YqJK6L7jNtm7V4XwQMjzD_MjUiF74bEUw
> .
@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:NP525854.RAYv8_tly5P0YqJK6L7jNtm7V4XwQMjzD_MjUiF74bEUw130_head
{
this:
np:hasAssertion
dgn-np:NP525854.RAYv8_tly5P0YqJK6L7jNtm7V4XwQMjzD_MjUiF74bEUw130_assertion
;
np:hasProvenance
dgn-np:NP525854.RAYv8_tly5P0YqJK6L7jNtm7V4XwQMjzD_MjUiF74bEUw130_provenance
;
np:hasPublicationInfo
dgn-np:NP525854.RAYv8_tly5P0YqJK6L7jNtm7V4XwQMjzD_MjUiF74bEUw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP525854.RAYv8_tly5P0YqJK6L7jNtm7V4XwQMjzD_MjUiF74bEUw130_assertion
a
np:Assertion
.
dgn-np:NP525854.RAYv8_tly5P0YqJK6L7jNtm7V4XwQMjzD_MjUiF74bEUw130_provenance
a
np:Provenance
.
dgn-np:NP525854.RAYv8_tly5P0YqJK6L7jNtm7V4XwQMjzD_MjUiF74bEUw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP525854.RAYv8_tly5P0YqJK6L7jNtm7V4XwQMjzD_MjUiF74bEUw130_assertion
{
miriam-gene:5925
a
ncit:C16612
.
lld:C1458156
a
ncit:C7057
.
dgn-gda:DGN6ebbecf4fcaf0808fbd946c17693487c
sio:SIO_000628
miriam-gene:5925
,
lld:C1458156
;
a
sio:SIO_001121
.
}
dgn-np:NP525854.RAYv8_tly5P0YqJK6L7jNtm7V4XwQMjzD_MjUiF74bEUw130_provenance
{
dgn-np:NP525854.RAYv8_tly5P0YqJK6L7jNtm7V4XwQMjzD_MjUiF74bEUw130_assertion
dcterms:description
"[Although oncogenic mutations in the terminal exons of the RB1 gene are rare molecular testing is important as those terminal mutations can be associated with incomplete penetrance and cause high recurrence risk in family members.]. 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:18509746
;
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:NP525854.RAYv8_tly5P0YqJK6L7jNtm7V4XwQMjzD_MjUiF74bEUw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:15+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" .
}