@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP407433.RAvXe6n1STZGf0d9JjCtPHU9sJLurNWeMFftS6fxMujoA
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP407433.RAvXe6n1STZGf0d9JjCtPHU9sJLurNWeMFftS6fxMujoA130_head
{
this:
np:hasAssertion
dgn-np:NP407433.RAvXe6n1STZGf0d9JjCtPHU9sJLurNWeMFftS6fxMujoA130_assertion
;
np:hasProvenance
dgn-np:NP407433.RAvXe6n1STZGf0d9JjCtPHU9sJLurNWeMFftS6fxMujoA130_provenance
;
np:hasPublicationInfo
dgn-np:NP407433.RAvXe6n1STZGf0d9JjCtPHU9sJLurNWeMFftS6fxMujoA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP407433.RAvXe6n1STZGf0d9JjCtPHU9sJLurNWeMFftS6fxMujoA130_assertion
a
np:Assertion
.
dgn-np:NP407433.RAvXe6n1STZGf0d9JjCtPHU9sJLurNWeMFftS6fxMujoA130_provenance
a
np:Provenance
.
dgn-np:NP407433.RAvXe6n1STZGf0d9JjCtPHU9sJLurNWeMFftS6fxMujoA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP407433.RAvXe6n1STZGf0d9JjCtPHU9sJLurNWeMFftS6fxMujoA130_assertion
{
miriam-gene:2182
a
ncit:C16612
.
lld:C2931498
a
ncit:C7057
.
dgn-gda:DGNcf10b29aaf934264c290a8938c34c94c
sio:SIO_000628
miriam-gene:2182
,
lld:C2931498
;
a
sio:SIO_001121
.
}
dgn-np:NP407433.RAvXe6n1STZGf0d9JjCtPHU9sJLurNWeMFftS6fxMujoA130_provenance
{
dgn-np:NP407433.RAvXe6n1STZGf0d9JjCtPHU9sJLurNWeMFftS6fxMujoA130_assertion
dcterms:description
"[As skewed X-inactivation, an apparently constant feature in FACL4 carrier females was not observed in an obligate carrier belonging to the MRX family presented here, the PAK3 gene should be considered as the strongest candidate for this MRX locus.]. 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:12949969
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP407433.RAvXe6n1STZGf0d9JjCtPHU9sJLurNWeMFftS6fxMujoA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:50+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}