@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP4479.RAVqNuWbRQCsLRelffyPTQn83qXZwfzLBTLM8bE_9bn9Q
> .
@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 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:NP4479.RAVqNuWbRQCsLRelffyPTQn83qXZwfzLBTLM8bE_9bn9Q130_head
{
this:
np:hasAssertion
dgn-np:NP4479.RAVqNuWbRQCsLRelffyPTQn83qXZwfzLBTLM8bE_9bn9Q130_assertion
;
np:hasProvenance
dgn-np:NP4479.RAVqNuWbRQCsLRelffyPTQn83qXZwfzLBTLM8bE_9bn9Q130_provenance
;
np:hasPublicationInfo
dgn-np:NP4479.RAVqNuWbRQCsLRelffyPTQn83qXZwfzLBTLM8bE_9bn9Q130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP4479.RAVqNuWbRQCsLRelffyPTQn83qXZwfzLBTLM8bE_9bn9Q130_assertion
a
np:Assertion
.
dgn-np:NP4479.RAVqNuWbRQCsLRelffyPTQn83qXZwfzLBTLM8bE_9bn9Q130_provenance
a
np:Provenance
.
dgn-np:NP4479.RAVqNuWbRQCsLRelffyPTQn83qXZwfzLBTLM8bE_9bn9Q130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP4479.RAVqNuWbRQCsLRelffyPTQn83qXZwfzLBTLM8bE_9bn9Q130_assertion
{
miriam-gene:378884
a
ncit:C16612
.
lld:C0751783
a
ncit:C7057
.
dgn-gda:DGN2fc640300e23facee2f363df345d85f7
sio:SIO_000628
miriam-gene:378884
,
lld:C0751783
;
a
sio:SIO_001122
.
}
dgn-np:NP4479.RAVqNuWbRQCsLRelffyPTQn83qXZwfzLBTLM8bE_9bn9Q130_provenance
{
dgn-np:NP4479.RAVqNuWbRQCsLRelffyPTQn83qXZwfzLBTLM8bE_9bn9Q130_assertion
dc:description
"[The lack of mutations in EPM2A and EPM2B in two families could be because of the presence of mutations in noncoding, nontested regions or the existence of an additional gene associated with Lafora disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:15781812
;
prov:wasDerivedFrom
dgn-void:uniprot-20130724
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20130724
pav:importedOn
"2013-07-24"^^
xsd:date
.
}
dgn-np:NP4479.RAVqNuWbRQCsLRelffyPTQn83qXZwfzLBTLM8bE_9bn9Q130_publicationInfo
{
this:
dc:created
"2014-10-02T12:32:00+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc: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" .
}