@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP223491.RA6sSv4m1T9-C6e5oyZcX4YYnhtPC75BgHFMy5Av4uXZs
> .
@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 dcterms: <
http://purl.org/dc/terms/
> .
@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:NP223491.RA6sSv4m1T9-C6e5oyZcX4YYnhtPC75BgHFMy5Av4uXZs130_head
{
this:
np:hasAssertion
dgn-np:NP223491.RA6sSv4m1T9-C6e5oyZcX4YYnhtPC75BgHFMy5Av4uXZs130_assertion
;
np:hasProvenance
dgn-np:NP223491.RA6sSv4m1T9-C6e5oyZcX4YYnhtPC75BgHFMy5Av4uXZs130_provenance
;
np:hasPublicationInfo
dgn-np:NP223491.RA6sSv4m1T9-C6e5oyZcX4YYnhtPC75BgHFMy5Av4uXZs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP223491.RA6sSv4m1T9-C6e5oyZcX4YYnhtPC75BgHFMy5Av4uXZs130_assertion
a
np:Assertion
.
dgn-np:NP223491.RA6sSv4m1T9-C6e5oyZcX4YYnhtPC75BgHFMy5Av4uXZs130_provenance
a
np:Provenance
.
dgn-np:NP223491.RA6sSv4m1T9-C6e5oyZcX4YYnhtPC75BgHFMy5Av4uXZs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP223491.RA6sSv4m1T9-C6e5oyZcX4YYnhtPC75BgHFMy5Av4uXZs130_assertion
{
miriam-gene:2010
a
ncit:C16612
.
lld:C0026850
a
ncit:C7057
.
dgn-gda:DGNaa50c082de8d7c67bdf03982d4dcbce4
sio:SIO_000628
miriam-gene:2010
,
lld:C0026850
;
a
sio:SIO_001121
.
}
dgn-np:NP223491.RA6sSv4m1T9-C6e5oyZcX4YYnhtPC75BgHFMy5Av4uXZs130_provenance
{
dgn-np:NP223491.RA6sSv4m1T9-C6e5oyZcX4YYnhtPC75BgHFMy5Av4uXZs130_assertion
dcterms:description
"[The inner nuclear membrane protein emerin was mislocalised upon expression of the muscular dystrophy mutants G232E, Q294P or R386K, which aberrantly assembled into nuclear aggregates, or upon expression of mutants causing progeria syndromes in vivo (lamin A del50, R471C, R527C and L530P).]. 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:16772334
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP223491.RA6sSv4m1T9-C6e5oyZcX4YYnhtPC75BgHFMy5Av4uXZs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:04+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: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" .
}