@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP707556.RAoKciDTpCie577PrUk35ZjCwk2aKKo5kLykBznBd7hHg
> .
@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:NP707556.RAoKciDTpCie577PrUk35ZjCwk2aKKo5kLykBznBd7hHg130_head
{
this:
np:hasAssertion
dgn-np:NP707556.RAoKciDTpCie577PrUk35ZjCwk2aKKo5kLykBznBd7hHg130_assertion
;
np:hasProvenance
dgn-np:NP707556.RAoKciDTpCie577PrUk35ZjCwk2aKKo5kLykBznBd7hHg130_provenance
;
np:hasPublicationInfo
dgn-np:NP707556.RAoKciDTpCie577PrUk35ZjCwk2aKKo5kLykBznBd7hHg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP707556.RAoKciDTpCie577PrUk35ZjCwk2aKKo5kLykBznBd7hHg130_assertion
a
np:Assertion
.
dgn-np:NP707556.RAoKciDTpCie577PrUk35ZjCwk2aKKo5kLykBznBd7hHg130_provenance
a
np:Provenance
.
dgn-np:NP707556.RAoKciDTpCie577PrUk35ZjCwk2aKKo5kLykBznBd7hHg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP707556.RAoKciDTpCie577PrUk35ZjCwk2aKKo5kLykBznBd7hHg130_assertion
{
miriam-gene:1287
a
ncit:C16612
.
lld:C0265216
a
ncit:C7057
.
dgn-gda:DGN8af2e73759812f483220c096ecc7daff
sio:SIO_000628
miriam-gene:1287
,
lld:C0265216
;
a
sio:SIO_001121
.
}
dgn-np:NP707556.RAoKciDTpCie577PrUk35ZjCwk2aKKo5kLykBznBd7hHg130_provenance
{
dgn-np:NP707556.RAoKciDTpCie577PrUk35ZjCwk2aKKo5kLykBznBd7hHg130_assertion
dcterms:description
"[Our preliminary results demonstrate that the quantity of mRNA expression level of the mutant COL4A5 gene was correlated with the phenotypic severity of females with XLAS, and this could not be explained by X-inactivation pattern in peripheral blood leukocytes.]. 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:17463160
;
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:NP707556.RAoKciDTpCie577PrUk35ZjCwk2aKKo5kLykBznBd7hHg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:10+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" .
}