@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY
> .
@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:NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY130_head
{
this:
np:hasAssertion
dgn-np:NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY130_assertion
;
np:hasProvenance
dgn-np:NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY130_provenance
;
np:hasPublicationInfo
dgn-np:NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY130_assertion
a
np:Assertion
.
dgn-np:NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY130_provenance
a
np:Provenance
.
dgn-np:NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY130_assertion
{
miriam-gene:5339
a
ncit:C16612
.
lld:C1869123
a
ncit:C7057
.
dgn-gda:DGN9013bead9c909e323eaff3106352378e
sio:SIO_000628
miriam-gene:5339
,
lld:C1869123
;
a
sio:SIO_001121
.
}
dgn-np:NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY130_provenance
{
dgn-np:NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY130_assertion
dcterms:description
"[Our data show that one of the isoforms of plectin plays a key role in skeletal muscle function and that disruption of the plectin 1f can cause the LGMD2 phenotype without any dermatologic component as was previously reported with mutations in constant exons of PLEC.]. 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:21109228
;
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:NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:43+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" .
}