@prefix orcid: <
http://orcid.org/
> .
@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP8901.RAtxGtGFmajgiKmF9Vans91hXpMrJL3ObIJnE8UB5i88U
> .
@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 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:NP8901.RAtxGtGFmajgiKmF9Vans91hXpMrJL3ObIJnE8UB5i88U130_head
{
this:
np:hasAssertion
dgn-np:NP8901.RAtxGtGFmajgiKmF9Vans91hXpMrJL3ObIJnE8UB5i88U130_assertion
;
np:hasProvenance
dgn-np:NP8901.RAtxGtGFmajgiKmF9Vans91hXpMrJL3ObIJnE8UB5i88U130_provenance
;
np:hasPublicationInfo
dgn-np:NP8901.RAtxGtGFmajgiKmF9Vans91hXpMrJL3ObIJnE8UB5i88U130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP8901.RAtxGtGFmajgiKmF9Vans91hXpMrJL3ObIJnE8UB5i88U130_assertion
a
np:Assertion
.
dgn-np:NP8901.RAtxGtGFmajgiKmF9Vans91hXpMrJL3ObIJnE8UB5i88U130_provenance
a
np:Provenance
.
dgn-np:NP8901.RAtxGtGFmajgiKmF9Vans91hXpMrJL3ObIJnE8UB5i88U130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP8901.RAtxGtGFmajgiKmF9Vans91hXpMrJL3ObIJnE8UB5i88U130_assertion
{
miriam-gene:7490
a
ncit:C16612
.
lld:C0950121
a
ncit:C7057
.
dgn-gda:DGNd92302b41382c49c6201131d2355a70c
sio:SIO_000628
miriam-gene:7490
,
lld:C0950121
;
a
sio:SIO_001122
.
}
dgn-np:NP8901.RAtxGtGFmajgiKmF9Vans91hXpMrJL3ObIJnE8UB5i88U130_provenance
{
dgn-np:NP8901.RAtxGtGFmajgiKmF9Vans91hXpMrJL3ObIJnE8UB5i88U130_assertion
dc:description
"[However, in addition to the 12 patients, three DDS patients were also analysed using SSCP, and in all three cases heterozygous WT1 mutations were found which would be predicted to disrupt the DNA binding activity of WT1 protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:8411073
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP8901.RAtxGtGFmajgiKmF9Vans91hXpMrJL3ObIJnE8UB5i88U130_publicationInfo
{
this:
dc:created
"2016-05-13T12:41:53+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
pav:authoredBy
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}