@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP605508.RAESuN3XllpHiw8zx6XO7uF2qLMBTysV0h1WhGWIQAE7Y
> .
@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:NP605508.RAESuN3XllpHiw8zx6XO7uF2qLMBTysV0h1WhGWIQAE7Y130_head
{
this:
np:hasAssertion
dgn-np:NP605508.RAESuN3XllpHiw8zx6XO7uF2qLMBTysV0h1WhGWIQAE7Y130_assertion
;
np:hasProvenance
dgn-np:NP605508.RAESuN3XllpHiw8zx6XO7uF2qLMBTysV0h1WhGWIQAE7Y130_provenance
;
np:hasPublicationInfo
dgn-np:NP605508.RAESuN3XllpHiw8zx6XO7uF2qLMBTysV0h1WhGWIQAE7Y130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP605508.RAESuN3XllpHiw8zx6XO7uF2qLMBTysV0h1WhGWIQAE7Y130_assertion
a
np:Assertion
.
dgn-np:NP605508.RAESuN3XllpHiw8zx6XO7uF2qLMBTysV0h1WhGWIQAE7Y130_provenance
a
np:Provenance
.
dgn-np:NP605508.RAESuN3XllpHiw8zx6XO7uF2qLMBTysV0h1WhGWIQAE7Y130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP605508.RAESuN3XllpHiw8zx6XO7uF2qLMBTysV0h1WhGWIQAE7Y130_assertion
{
miriam-gene:6663
a
ncit:C16612
.
lld:C0036875
a
ncit:C7057
.
dgn-gda:DGNed8893a469220e66891971a0cfd1c45e
sio:SIO_000628
miriam-gene:6663
,
lld:C0036875
;
a
sio:SIO_001121
.
}
dgn-np:NP605508.RAESuN3XllpHiw8zx6XO7uF2qLMBTysV0h1WhGWIQAE7Y130_provenance
{
dgn-np:NP605508.RAESuN3XllpHiw8zx6XO7uF2qLMBTysV0h1WhGWIQAE7Y130_assertion
dcterms:description
"[Because over-expression of SOX10 alone is able to mimic the XX DSD phenotypes associated with duplication of human chromosome 22q13, and given that human SOX10 maps to 22q13.1, our results functionally implicate SOX10 in the etiology of these DSDs.]. 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:19933217
;
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:NP605508.RAESuN3XllpHiw8zx6XO7uF2qLMBTysV0h1WhGWIQAE7Y130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:03+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" .
}