@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP792017.RAJ7OawwY3N6N-bUI7ZAbB2AcP1zRuQhuTeEA2SgIXVVo
> .
@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/v3.0.0/void/
> .
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{
this:
np:hasAssertion
dgn-np:NP792017.RAJ7OawwY3N6N-bUI7ZAbB2AcP1zRuQhuTeEA2SgIXVVo130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
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a
np:Nanopublication
.
dgn-np:NP792017.RAJ7OawwY3N6N-bUI7ZAbB2AcP1zRuQhuTeEA2SgIXVVo130_assertion
a
np:Assertion
.
dgn-np:NP792017.RAJ7OawwY3N6N-bUI7ZAbB2AcP1zRuQhuTeEA2SgIXVVo130_provenance
a
np:Provenance
.
dgn-np:NP792017.RAJ7OawwY3N6N-bUI7ZAbB2AcP1zRuQhuTeEA2SgIXVVo130_publicationInfo
a
np:PublicationInfo
.
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{
miriam-gene:8170
a
ncit:C16612
.
lld:C0410226
a
ncit:C7057
.
dgn-gda:DGNef4606b79a70b574b0993474b224d38e
sio:SIO_000628
miriam-gene:8170
,
lld:C0410226
;
a
sio:SIO_001121
.
}
dgn-np:NP792017.RAJ7OawwY3N6N-bUI7ZAbB2AcP1zRuQhuTeEA2SgIXVVo130_provenance
{
dgn-np:NP792017.RAJ7OawwY3N6N-bUI7ZAbB2AcP1zRuQhuTeEA2SgIXVVo130_assertion
dcterms:description
"[Myotonic Dystrophy type I (DM1) is caused by an abnormal expansion of CTG triplets in the 3' UTR of the dystrophia myotonica protein kinase (DMPK) gene, leading to the aggregation of the mutant transcript in nuclear RNA foci.]. 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:22156369
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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 .
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dgn-np:NP792017.RAJ7OawwY3N6N-bUI7ZAbB2AcP1zRuQhuTeEA2SgIXVVo130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:45:39+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
;
prv:usedData
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;
pav:authoredBy
<
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> , <
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> , <
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> , <
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> , <
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> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
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pav:version
"v3.0.0" .
}