@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP861242.RAPWUcwXiVJn1qunlVUWFAfaSAnT7HydXmvQgWvcBYzCw
> .
@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:NP861242.RAPWUcwXiVJn1qunlVUWFAfaSAnT7HydXmvQgWvcBYzCw130_head
{
this:
np:hasAssertion
dgn-np:NP861242.RAPWUcwXiVJn1qunlVUWFAfaSAnT7HydXmvQgWvcBYzCw130_assertion
;
np:hasProvenance
dgn-np:NP861242.RAPWUcwXiVJn1qunlVUWFAfaSAnT7HydXmvQgWvcBYzCw130_provenance
;
np:hasPublicationInfo
dgn-np:NP861242.RAPWUcwXiVJn1qunlVUWFAfaSAnT7HydXmvQgWvcBYzCw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP861242.RAPWUcwXiVJn1qunlVUWFAfaSAnT7HydXmvQgWvcBYzCw130_assertion
a
np:Assertion
.
dgn-np:NP861242.RAPWUcwXiVJn1qunlVUWFAfaSAnT7HydXmvQgWvcBYzCw130_provenance
a
np:Provenance
.
dgn-np:NP861242.RAPWUcwXiVJn1qunlVUWFAfaSAnT7HydXmvQgWvcBYzCw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP861242.RAPWUcwXiVJn1qunlVUWFAfaSAnT7HydXmvQgWvcBYzCw130_assertion
{
miriam-gene:6102
a
ncit:C16612
.
lld:C0025362
a
ncit:C7057
.
dgn-gda:DGN5f6dc13dd38ce223253f3e7d1dcaa0f0
sio:SIO_000628
miriam-gene:6102
,
lld:C0025362
;
a
sio:SIO_001121
.
}
dgn-np:NP861242.RAPWUcwXiVJn1qunlVUWFAfaSAnT7HydXmvQgWvcBYzCw130_provenance
{
dgn-np:NP861242.RAPWUcwXiVJn1qunlVUWFAfaSAnT7HydXmvQgWvcBYzCw130_assertion
dcterms:description
"[Although the RD was ascribed to the deletion of RP2, the ID was suggested to be accounted for by the loss of ZNF674, which mutations were independently reported to account for isolated XLID.]. 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:22126752
;
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:NP861242.RAPWUcwXiVJn1qunlVUWFAfaSAnT7HydXmvQgWvcBYzCw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:46+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" .
}