@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP446042.RAKFVkOpZ7MpXkBdn3dtxSWRfFwmwWnDCDpURdPsxSph8
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP446042.RAKFVkOpZ7MpXkBdn3dtxSWRfFwmwWnDCDpURdPsxSph8130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP446042.RAKFVkOpZ7MpXkBdn3dtxSWRfFwmwWnDCDpURdPsxSph8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP446042.RAKFVkOpZ7MpXkBdn3dtxSWRfFwmwWnDCDpURdPsxSph8130_assertion
a
np:Assertion
.
dgn-np:NP446042.RAKFVkOpZ7MpXkBdn3dtxSWRfFwmwWnDCDpURdPsxSph8130_provenance
a
np:Provenance
.
dgn-np:NP446042.RAKFVkOpZ7MpXkBdn3dtxSWRfFwmwWnDCDpURdPsxSph8130_publicationInfo
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np:PublicationInfo
.
}
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{
miriam-gene:8291
a
ncit:C16612
.
lld:C2931687
a
ncit:C7057
.
dgn-gda:DGN2815d1b88dcfe43e7539b353abc809f2
sio:SIO_000628
miriam-gene:8291
,
lld:C2931687
;
a
sio:SIO_001121
.
}
dgn-np:NP446042.RAKFVkOpZ7MpXkBdn3dtxSWRfFwmwWnDCDpURdPsxSph8130_provenance
{
dgn-np:NP446042.RAKFVkOpZ7MpXkBdn3dtxSWRfFwmwWnDCDpURdPsxSph8130_assertion
dcterms:description
"[Using western-blot (WB) we quantified dysferlin expression in PBM from 21 pathological controls with other myopathies in whom mutations in DYSF were excluded and from 17 patients who had dysferlinopathy and two mutations in DYSF.]. 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:22194990
;
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 .
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dgn-np:NP446042.RAKFVkOpZ7MpXkBdn3dtxSWRfFwmwWnDCDpURdPsxSph8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:26+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
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"v2.1.0" .
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