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http://rdf.disgenet.org/nanopublications.trig#NP340543.RATm4KOvnDiGrW43NdnRlEgjxgkJyOx7tFfxODePGWlXk
> .
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http://www.w3.org/2000/01/rdf-schema#
> .
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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#
> .
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http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
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{
this:
np:hasAssertion
dgn-np:NP340543.RATm4KOvnDiGrW43NdnRlEgjxgkJyOx7tFfxODePGWlXk130_assertion
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np:hasProvenance
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a
np:Nanopublication
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a
np:Assertion
.
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np:Provenance
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dgn-np:NP340543.RATm4KOvnDiGrW43NdnRlEgjxgkJyOx7tFfxODePGWlXk130_publicationInfo
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dgn-np:NP340543.RATm4KOvnDiGrW43NdnRlEgjxgkJyOx7tFfxODePGWlXk130_assertion
{
miriam-gene:7490
a
ncit:C16612
.
lld:C0018054
a
ncit:C7057
.
dgn-gda:DGNd7c6a440b3ba8330702c0c16d1ff3556
sio:SIO_000628
miriam-gene:7490
,
lld:C0018054
;
a
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.
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dgn-np:NP340543.RATm4KOvnDiGrW43NdnRlEgjxgkJyOx7tFfxODePGWlXk130_provenance
{
dgn-np:NP340543.RATm4KOvnDiGrW43NdnRlEgjxgkJyOx7tFfxODePGWlXk130_assertion
dcterms:description
"[The design of the study was: 1) sequencing of the WT1 gene in 210 patients with 46,XY DSD from the German DSD network, consisting of 150 males with severe hypospadias (70 without cryptorchidism, 80 with at least one cryptorchid testis), 10 males with vanishing testes syndrome, and 50 raised females with partial to complete 46,XY gonadal dysgenesis; and 2) genotype-phenotype correlation of our and all published patients with 46,XY DSD and WT1 mutations.]. 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:21508141
;
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:NP340543.RATm4KOvnDiGrW43NdnRlEgjxgkJyOx7tFfxODePGWlXk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:20+02:00"^^
xsd:dateTime
;
dcterms:rights
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> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
;
prv:usedData
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> , <
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> , <
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> ;
pav:createdBy
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pav:version
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dgn-void:disgenetrdf
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}