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http://rdf.disgenet.org/nanopublications.trig#NP793146.RAVsDmkTgzd-TT9d_QSBW-HuAf8mla80M107-9pd8zyRI
> .
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http://www.w3.org/2000/01/rdf-schema#
> .
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http://www.w3.org/2001/XMLSchema#
> .
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http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
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http://linkedlifedata.com/resource/umls/id/
> .
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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#
> .
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{
this:
np:hasAssertion
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np:hasProvenance
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a
np:Assertion
.
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dgn-np:NP793146.RAVsDmkTgzd-TT9d_QSBW-HuAf8mla80M107-9pd8zyRI130_assertion
{
miriam-gene:2516
a
ncit:C16612
.
lld:C0085215
a
ncit:C7057
.
dgn-gda:DGN3b29d2df801cbd5913f0ec861b6fc06c
sio:SIO_000628
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,
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.
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dgn-np:NP793146.RAVsDmkTgzd-TT9d_QSBW-HuAf8mla80M107-9pd8zyRI130_provenance
{
dgn-np:NP793146.RAVsDmkTgzd-TT9d_QSBW-HuAf8mla80M107-9pd8zyRI130_assertion
dcterms:description
"[NR5A1 mutations have been detected in 46,XY individuals with disorders of sexual development (DSD) but apparently normal adrenal function and in 46,XX women with normal sexual development yet primary ovarian insufficiency (POI).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
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sio:SIO_000772
miriam-pubmed:22549935
;
prov:wasDerivedFrom
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;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
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xsd:date
.
dgn-void:source_evidence_literature
a
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;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
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dgn-np:NP793146.RAVsDmkTgzd-TT9d_QSBW-HuAf8mla80M107-9pd8zyRI130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
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dgn-void:IBIGroup
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dcterms:subject
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<
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