@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1041596.RACN4U6hZ9r5N_DC1KzSqWFNbIazeYD7G7JhxRjLL3GYA
> .
@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:NP1041596.RACN4U6hZ9r5N_DC1KzSqWFNbIazeYD7G7JhxRjLL3GYA130_head
{
this:
np:hasAssertion
dgn-np:NP1041596.RACN4U6hZ9r5N_DC1KzSqWFNbIazeYD7G7JhxRjLL3GYA130_assertion
;
np:hasProvenance
dgn-np:NP1041596.RACN4U6hZ9r5N_DC1KzSqWFNbIazeYD7G7JhxRjLL3GYA130_provenance
;
np:hasPublicationInfo
dgn-np:NP1041596.RACN4U6hZ9r5N_DC1KzSqWFNbIazeYD7G7JhxRjLL3GYA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1041596.RACN4U6hZ9r5N_DC1KzSqWFNbIazeYD7G7JhxRjLL3GYA130_assertion
a
np:Assertion
.
dgn-np:NP1041596.RACN4U6hZ9r5N_DC1KzSqWFNbIazeYD7G7JhxRjLL3GYA130_provenance
a
np:Provenance
.
dgn-np:NP1041596.RACN4U6hZ9r5N_DC1KzSqWFNbIazeYD7G7JhxRjLL3GYA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1041596.RACN4U6hZ9r5N_DC1KzSqWFNbIazeYD7G7JhxRjLL3GYA130_assertion
{
miriam-gene:54982
a
ncit:C16612
.
lld:C0022797
a
ncit:C7057
.
dgn-gda:DGN9f295c244ebcc7ff5487cefa3ba6711a
sio:SIO_000628
miriam-gene:54982
,
lld:C0022797
;
a
sio:SIO_001121
.
}
dgn-np:NP1041596.RACN4U6hZ9r5N_DC1KzSqWFNbIazeYD7G7JhxRjLL3GYA130_provenance
{
dgn-np:NP1041596.RACN4U6hZ9r5N_DC1KzSqWFNbIazeYD7G7JhxRjLL3GYA130_assertion
dcterms:description
"[Mutations in CLN6 were recently identified in recessive Kufs disease presenting as progressive myoclonus epilepsy (Type A), whereas the molecular basis of cases presenting with dementia and motor features (Type B) is unknown.]. 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:23297359
;
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:NP1041596.RACN4U6hZ9r5N_DC1KzSqWFNbIazeYD7G7JhxRjLL3GYA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:38+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: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" .
}