@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP343714.RAFNdw7QdbvisKon66EuGp2LH4zCSTMLeesybL7v5E5T0
> .
@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:NP343714.RAFNdw7QdbvisKon66EuGp2LH4zCSTMLeesybL7v5E5T0130_head
{
this:
np:hasAssertion
dgn-np:NP343714.RAFNdw7QdbvisKon66EuGp2LH4zCSTMLeesybL7v5E5T0130_assertion
;
np:hasProvenance
dgn-np:NP343714.RAFNdw7QdbvisKon66EuGp2LH4zCSTMLeesybL7v5E5T0130_provenance
;
np:hasPublicationInfo
dgn-np:NP343714.RAFNdw7QdbvisKon66EuGp2LH4zCSTMLeesybL7v5E5T0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP343714.RAFNdw7QdbvisKon66EuGp2LH4zCSTMLeesybL7v5E5T0130_assertion
a
np:Assertion
.
dgn-np:NP343714.RAFNdw7QdbvisKon66EuGp2LH4zCSTMLeesybL7v5E5T0130_provenance
a
np:Provenance
.
dgn-np:NP343714.RAFNdw7QdbvisKon66EuGp2LH4zCSTMLeesybL7v5E5T0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP343714.RAFNdw7QdbvisKon66EuGp2LH4zCSTMLeesybL7v5E5T0130_assertion
{
miriam-gene:140805
a
ncit:C16612
.
lld:C0042798
a
ncit:C7057
.
dgn-gda:DGN58ada72ff22d7e7d77dad41588ed752c
sio:SIO_000628
miriam-gene:140805
,
lld:C0042798
;
a
sio:SIO_001121
.
}
dgn-np:NP343714.RAFNdw7QdbvisKon66EuGp2LH4zCSTMLeesybL7v5E5T0130_provenance
{
dgn-np:NP343714.RAFNdw7QdbvisKon66EuGp2LH4zCSTMLeesybL7v5E5T0130_assertion
dcterms:description
"[We present here the case of a female patient with a point mutation at nucleotide position T14484C, who suffered from relapsing episodes of visual loss of both eyes and consecutively developed Hashimoto thyroiditis as well as widespread demyelinating CNS lesions outside the visual system.]. 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:15483043
;
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:NP343714.RAFNdw7QdbvisKon66EuGp2LH4zCSTMLeesybL7v5E5T0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:22+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" .
}