@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP981823.RAPtypSClqc7LF9ju5WltVS36U9XWTJGwrZdR2zsMrnPA
> .
@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:NP981823.RAPtypSClqc7LF9ju5WltVS36U9XWTJGwrZdR2zsMrnPA130_head
{
this:
np:hasAssertion
dgn-np:NP981823.RAPtypSClqc7LF9ju5WltVS36U9XWTJGwrZdR2zsMrnPA130_assertion
;
np:hasProvenance
dgn-np:NP981823.RAPtypSClqc7LF9ju5WltVS36U9XWTJGwrZdR2zsMrnPA130_provenance
;
np:hasPublicationInfo
dgn-np:NP981823.RAPtypSClqc7LF9ju5WltVS36U9XWTJGwrZdR2zsMrnPA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP981823.RAPtypSClqc7LF9ju5WltVS36U9XWTJGwrZdR2zsMrnPA130_assertion
a
np:Assertion
.
dgn-np:NP981823.RAPtypSClqc7LF9ju5WltVS36U9XWTJGwrZdR2zsMrnPA130_provenance
a
np:Provenance
.
dgn-np:NP981823.RAPtypSClqc7LF9ju5WltVS36U9XWTJGwrZdR2zsMrnPA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP981823.RAPtypSClqc7LF9ju5WltVS36U9XWTJGwrZdR2zsMrnPA130_assertion
{
miriam-gene:5076
a
ncit:C16612
.
lld:C1852759
a
ncit:C7057
.
dgn-gda:DGN03912f61c57954d01cf1f13f1f0c66b8
sio:SIO_000628
miriam-gene:5076
,
lld:C1852759
;
a
sio:SIO_001121
.
}
dgn-np:NP981823.RAPtypSClqc7LF9ju5WltVS36U9XWTJGwrZdR2zsMrnPA130_provenance
{
dgn-np:NP981823.RAPtypSClqc7LF9ju5WltVS36U9XWTJGwrZdR2zsMrnPA130_assertion
dcterms:description
"[This finding provided the molecular confirmation of the patient's clinical diagnosis and showed that, in addition to point mutations, deletions of the PAX2 gene contribute to the etiology of the renal-coloboma syndrome.]. 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:22581475
;
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:NP981823.RAPtypSClqc7LF9ju5WltVS36U9XWTJGwrZdR2zsMrnPA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:10+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: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" .
}