@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk
> .
@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 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:NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk130_head
{
this:
np:hasAssertion
dgn-np:NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk130_assertion
;
np:hasProvenance
dgn-np:NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk130_provenance
;
np:hasPublicationInfo
dgn-np:NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk130_assertion
a
np:Assertion
.
dgn-np:NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk130_provenance
a
np:Provenance
.
dgn-np:NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk130_assertion
{
miriam-gene:7957
a
ncit:C16612
.
lld:C0751783
a
ncit:C7057
.
dgn-gda:DGNe7726c8777d7e990e069ffe1b04317e6
sio:SIO_000628
miriam-gene:7957
,
lld:C0751783
;
a
sio:SIO_001122
.
}
dgn-np:NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk130_provenance
{
dgn-np:NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk130_assertion
dcterms:description
"[The data reported here represent the first systematic analysis of the mutational events in the EPM2A gene in Lafora disease patients and provide insight into the origin and evolution of the different EPM2A alleles.]. 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:11175283
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
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-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP1251.RALzYaDOAYXLeO8u5SYgM7N8IlbhySnaWpPdfM1BNVZPk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:41:50+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" .
}