@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP295862.RAoP6aIxW2xSeCH7tH799dIaiscJQTBsYKi4XIBrmjiFk
> .
@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:NP295862.RAoP6aIxW2xSeCH7tH799dIaiscJQTBsYKi4XIBrmjiFk130_head
{
this:
np:hasAssertion
dgn-np:NP295862.RAoP6aIxW2xSeCH7tH799dIaiscJQTBsYKi4XIBrmjiFk130_assertion
;
np:hasProvenance
dgn-np:NP295862.RAoP6aIxW2xSeCH7tH799dIaiscJQTBsYKi4XIBrmjiFk130_provenance
;
np:hasPublicationInfo
dgn-np:NP295862.RAoP6aIxW2xSeCH7tH799dIaiscJQTBsYKi4XIBrmjiFk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP295862.RAoP6aIxW2xSeCH7tH799dIaiscJQTBsYKi4XIBrmjiFk130_assertion
a
np:Assertion
.
dgn-np:NP295862.RAoP6aIxW2xSeCH7tH799dIaiscJQTBsYKi4XIBrmjiFk130_provenance
a
np:Provenance
.
dgn-np:NP295862.RAoP6aIxW2xSeCH7tH799dIaiscJQTBsYKi4XIBrmjiFk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP295862.RAoP6aIxW2xSeCH7tH799dIaiscJQTBsYKi4XIBrmjiFk130_assertion
{
miriam-gene:378884
a
ncit:C16612
.
lld:C0751783
a
ncit:C7057
.
dgn-gda:DGNee7c256dace6e312d8fa4d4a8bb9f791
sio:SIO_000628
miriam-gene:378884
,
lld:C0751783
;
a
sio:SIO_001121
.
}
dgn-np:NP295862.RAoP6aIxW2xSeCH7tH799dIaiscJQTBsYKi4XIBrmjiFk130_provenance
{
dgn-np:NP295862.RAoP6aIxW2xSeCH7tH799dIaiscJQTBsYKi4XIBrmjiFk130_assertion
dcterms:description
"[Our results suggest that laforin is involved in translational regulation and that protein misfolding may be one of the molecular bases of the Lafora disease phenotype caused by missense mutations in the EPM2A gene.]. 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:11001928
;
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:NP295862.RAoP6aIxW2xSeCH7tH799dIaiscJQTBsYKi4XIBrmjiFk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:59+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" .
}