@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP939495.RAUzzIP5Ng3xfIZ8SCEkkz--1HgIU1sXl4Ir8w9cQLlCw
> .
@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:NP939495.RAUzzIP5Ng3xfIZ8SCEkkz--1HgIU1sXl4Ir8w9cQLlCw130_head
{
this:
np:hasAssertion
dgn-np:NP939495.RAUzzIP5Ng3xfIZ8SCEkkz--1HgIU1sXl4Ir8w9cQLlCw130_assertion
;
np:hasProvenance
dgn-np:NP939495.RAUzzIP5Ng3xfIZ8SCEkkz--1HgIU1sXl4Ir8w9cQLlCw130_provenance
;
np:hasPublicationInfo
dgn-np:NP939495.RAUzzIP5Ng3xfIZ8SCEkkz--1HgIU1sXl4Ir8w9cQLlCw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP939495.RAUzzIP5Ng3xfIZ8SCEkkz--1HgIU1sXl4Ir8w9cQLlCw130_assertion
a
np:Assertion
.
dgn-np:NP939495.RAUzzIP5Ng3xfIZ8SCEkkz--1HgIU1sXl4Ir8w9cQLlCw130_provenance
a
np:Provenance
.
dgn-np:NP939495.RAUzzIP5Ng3xfIZ8SCEkkz--1HgIU1sXl4Ir8w9cQLlCw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP939495.RAUzzIP5Ng3xfIZ8SCEkkz--1HgIU1sXl4Ir8w9cQLlCw130_assertion
{
miriam-gene:8398
a
ncit:C16612
.
lld:C1857747
a
ncit:C7057
.
dgn-gda:DGN0000d8ef0338e7cf56842ecb68fa2c41
sio:SIO_000628
miriam-gene:8398
,
lld:C1857747
;
a
sio:SIO_001121
.
}
dgn-np:NP939495.RAUzzIP5Ng3xfIZ8SCEkkz--1HgIU1sXl4Ir8w9cQLlCw130_provenance
{
dgn-np:NP939495.RAUzzIP5Ng3xfIZ8SCEkkz--1HgIU1sXl4Ir8w9cQLlCw130_assertion
dcterms:description
"[More recently, it was found that mutations in the PLA2G6 gene cause both infantile neuroaxonal dystrophy (INAD) and, more rarely, an atypical neuroaxonal dystrophy that overlaps clinically with other forms of NBIA.]. 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:18981035
;
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:NP939495.RAUzzIP5Ng3xfIZ8SCEkkz--1HgIU1sXl4Ir8w9cQLlCw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:35+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" .
}