@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP756247.RAecQXIzr2LEFbDJrPx5-u6qo3s9XbolM5saLDSjK-GkM
> .
@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:NP756247.RAecQXIzr2LEFbDJrPx5-u6qo3s9XbolM5saLDSjK-GkM130_head
{
this:
np:hasAssertion
dgn-np:NP756247.RAecQXIzr2LEFbDJrPx5-u6qo3s9XbolM5saLDSjK-GkM130_assertion
;
np:hasProvenance
dgn-np:NP756247.RAecQXIzr2LEFbDJrPx5-u6qo3s9XbolM5saLDSjK-GkM130_provenance
;
np:hasPublicationInfo
dgn-np:NP756247.RAecQXIzr2LEFbDJrPx5-u6qo3s9XbolM5saLDSjK-GkM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP756247.RAecQXIzr2LEFbDJrPx5-u6qo3s9XbolM5saLDSjK-GkM130_assertion
a
np:Assertion
.
dgn-np:NP756247.RAecQXIzr2LEFbDJrPx5-u6qo3s9XbolM5saLDSjK-GkM130_provenance
a
np:Provenance
.
dgn-np:NP756247.RAecQXIzr2LEFbDJrPx5-u6qo3s9XbolM5saLDSjK-GkM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP756247.RAecQXIzr2LEFbDJrPx5-u6qo3s9XbolM5saLDSjK-GkM130_assertion
{
miriam-gene:415
a
ncit:C16612
.
lld:C1844853
a
ncit:C7057
.
dgn-gda:DGNfb6dfd678cca1ce35f58b882eb00c31a
sio:SIO_000628
miriam-gene:415
,
lld:C1844853
;
a
sio:SIO_001121
.
}
dgn-np:NP756247.RAecQXIzr2LEFbDJrPx5-u6qo3s9XbolM5saLDSjK-GkM130_provenance
{
dgn-np:NP756247.RAecQXIzr2LEFbDJrPx5-u6qo3s9XbolM5saLDSjK-GkM130_assertion
dcterms:description
"[This report expands the spectrum of mutations of the ARSE gene and, to the best of our knowledge, is the first clinically and genetically confirmed case of CDPX1 with severe spinal cord compression in Korea.]. 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:23462608
;
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:NP756247.RAecQXIzr2LEFbDJrPx5-u6qo3s9XbolM5saLDSjK-GkM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:38+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" .
}