@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP808964.RACIeXrV2pi3DPhCcaiIi4ty5TsyMu3PbCNj2yyisLLm4
> .
@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:NP808964.RACIeXrV2pi3DPhCcaiIi4ty5TsyMu3PbCNj2yyisLLm4130_head
{
this:
np:hasAssertion
dgn-np:NP808964.RACIeXrV2pi3DPhCcaiIi4ty5TsyMu3PbCNj2yyisLLm4130_assertion
;
np:hasProvenance
dgn-np:NP808964.RACIeXrV2pi3DPhCcaiIi4ty5TsyMu3PbCNj2yyisLLm4130_provenance
;
np:hasPublicationInfo
dgn-np:NP808964.RACIeXrV2pi3DPhCcaiIi4ty5TsyMu3PbCNj2yyisLLm4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP808964.RACIeXrV2pi3DPhCcaiIi4ty5TsyMu3PbCNj2yyisLLm4130_assertion
a
np:Assertion
.
dgn-np:NP808964.RACIeXrV2pi3DPhCcaiIi4ty5TsyMu3PbCNj2yyisLLm4130_provenance
a
np:Provenance
.
dgn-np:NP808964.RACIeXrV2pi3DPhCcaiIi4ty5TsyMu3PbCNj2yyisLLm4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP808964.RACIeXrV2pi3DPhCcaiIi4ty5TsyMu3PbCNj2yyisLLm4130_assertion
{
miriam-gene:50846
a
ncit:C16612
.
lld:C0041408
a
ncit:C7057
.
dgn-gda:DGNef3779a57c0e4200a10b41be8200dca9
sio:SIO_000628
miriam-gene:50846
,
lld:C0041408
;
a
sio:SIO_001121
.
}
dgn-np:NP808964.RACIeXrV2pi3DPhCcaiIi4ty5TsyMu3PbCNj2yyisLLm4130_provenance
{
dgn-np:NP808964.RACIeXrV2pi3DPhCcaiIi4ty5TsyMu3PbCNj2yyisLLm4130_assertion
dcterms:description
"[Comparing previously described mutations in DHH to the one observed in this study, we can affirm that the phenotypic spectrum of patients with gonadal dysgenesis due to mutations in DHH is variable.]. 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:16390857
;
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:NP808964.RACIeXrV2pi3DPhCcaiIi4ty5TsyMu3PbCNj2yyisLLm4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:16+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" .
}