@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP689411.RAOw_lpwmdB5p1q_XilpWzlkdVv7xBidV_FnX_ALbupnA
> .
@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:NP689411.RAOw_lpwmdB5p1q_XilpWzlkdVv7xBidV_FnX_ALbupnA130_head
{
this:
np:hasAssertion
dgn-np:NP689411.RAOw_lpwmdB5p1q_XilpWzlkdVv7xBidV_FnX_ALbupnA130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP689411.RAOw_lpwmdB5p1q_XilpWzlkdVv7xBidV_FnX_ALbupnA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP689411.RAOw_lpwmdB5p1q_XilpWzlkdVv7xBidV_FnX_ALbupnA130_assertion
a
np:Assertion
.
dgn-np:NP689411.RAOw_lpwmdB5p1q_XilpWzlkdVv7xBidV_FnX_ALbupnA130_provenance
a
np:Provenance
.
dgn-np:NP689411.RAOw_lpwmdB5p1q_XilpWzlkdVv7xBidV_FnX_ALbupnA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP689411.RAOw_lpwmdB5p1q_XilpWzlkdVv7xBidV_FnX_ALbupnA130_assertion
{
miriam-gene:10020
a
ncit:C16612
.
lld:C1853926
a
ncit:C7057
.
dgn-gda:DGN31722e1d7921693d85a2f94d116edd13
sio:SIO_000628
miriam-gene:10020
,
lld:C1853926
;
a
sio:SIO_001122
.
}
dgn-np:NP689411.RAOw_lpwmdB5p1q_XilpWzlkdVv7xBidV_FnX_ALbupnA130_provenance
{
dgn-np:NP689411.RAOw_lpwmdB5p1q_XilpWzlkdVv7xBidV_FnX_ALbupnA130_assertion
dcterms:description
"[To elucidate the pathological mechanisms leading from the mutated GNE to the HIBM phenotype, we attempted to identify and characterize early occurring downstream events by analyzing the genomic expression patterns of muscle specimens from 10 HIBM patients carrying the M712T Persian Jewish founder mutation and presenting mild histological changes, compared with 10 healthy matched control individuals, using GeneChip expression microarrays.]. 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:18723858
;
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:NP689411.RAOw_lpwmdB5p1q_XilpWzlkdVv7xBidV_FnX_ALbupnA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:57+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
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;
pav:authoredBy
<
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> , <
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" .
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pav:version
"v4.0.0" .
}