@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP831636.RA3MT4gnPGd1nHQX-gwEwlORAB3KnYWQApzImfx6xOcAY
> .
@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:NP831636.RA3MT4gnPGd1nHQX-gwEwlORAB3KnYWQApzImfx6xOcAY130_head
{
this:
np:hasAssertion
dgn-np:NP831636.RA3MT4gnPGd1nHQX-gwEwlORAB3KnYWQApzImfx6xOcAY130_assertion
;
np:hasProvenance
dgn-np:NP831636.RA3MT4gnPGd1nHQX-gwEwlORAB3KnYWQApzImfx6xOcAY130_provenance
;
np:hasPublicationInfo
dgn-np:NP831636.RA3MT4gnPGd1nHQX-gwEwlORAB3KnYWQApzImfx6xOcAY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP831636.RA3MT4gnPGd1nHQX-gwEwlORAB3KnYWQApzImfx6xOcAY130_assertion
a
np:Assertion
.
dgn-np:NP831636.RA3MT4gnPGd1nHQX-gwEwlORAB3KnYWQApzImfx6xOcAY130_provenance
a
np:Provenance
.
dgn-np:NP831636.RA3MT4gnPGd1nHQX-gwEwlORAB3KnYWQApzImfx6xOcAY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP831636.RA3MT4gnPGd1nHQX-gwEwlORAB3KnYWQApzImfx6xOcAY130_assertion
{
miriam-gene:537
a
ncit:C16612
.
lld:C0041408
a
ncit:C7057
.
dgn-gda:DGN1b254ae5a12c0784db21a731bb5cce35
sio:SIO_000628
miriam-gene:537
,
lld:C0041408
;
a
sio:SIO_001121
.
}
dgn-np:NP831636.RA3MT4gnPGd1nHQX-gwEwlORAB3KnYWQApzImfx6xOcAY130_provenance
{
dgn-np:NP831636.RA3MT4gnPGd1nHQX-gwEwlORAB3KnYWQApzImfx6xOcAY130_assertion
dcterms:description
"[To investigate the presence of mutations in the open reading frame (ORF), as well as on the 5' and 3', flanking regions of the SRY gene in patients with mixed gonadal dysgenesis (MGD) or with Turner syndrome (TS) and Y mosaicism.]. 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:15223166
;
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:NP831636.RA3MT4gnPGd1nHQX-gwEwlORAB3KnYWQApzImfx6xOcAY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:29+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" .
}