@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP860792.RA_cG1h-pmRmMv7r1QSTcL6aytxL8zeQDdwJC6tWh_pts
> .
@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:NP860792.RA_cG1h-pmRmMv7r1QSTcL6aytxL8zeQDdwJC6tWh_pts130_head
{
this:
np:hasAssertion
dgn-np:NP860792.RA_cG1h-pmRmMv7r1QSTcL6aytxL8zeQDdwJC6tWh_pts130_assertion
;
np:hasProvenance
dgn-np:NP860792.RA_cG1h-pmRmMv7r1QSTcL6aytxL8zeQDdwJC6tWh_pts130_provenance
;
np:hasPublicationInfo
dgn-np:NP860792.RA_cG1h-pmRmMv7r1QSTcL6aytxL8zeQDdwJC6tWh_pts130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP860792.RA_cG1h-pmRmMv7r1QSTcL6aytxL8zeQDdwJC6tWh_pts130_assertion
a
np:Assertion
.
dgn-np:NP860792.RA_cG1h-pmRmMv7r1QSTcL6aytxL8zeQDdwJC6tWh_pts130_provenance
a
np:Provenance
.
dgn-np:NP860792.RA_cG1h-pmRmMv7r1QSTcL6aytxL8zeQDdwJC6tWh_pts130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP860792.RA_cG1h-pmRmMv7r1QSTcL6aytxL8zeQDdwJC6tWh_pts130_assertion
{
miriam-gene:1145
a
ncit:C16612
.
lld:C0037285
a
ncit:C7057
.
dgn-gda:DGN0ce9b7dcf1a9594eb7a0e39af8e342b9
sio:SIO_000628
miriam-gene:1145
,
lld:C0037285
;
a
sio:SIO_001121
.
}
dgn-np:NP860792.RA_cG1h-pmRmMv7r1QSTcL6aytxL8zeQDdwJC6tWh_pts130_provenance
{
dgn-np:NP860792.RA_cG1h-pmRmMv7r1QSTcL6aytxL8zeQDdwJC6tWh_pts130_assertion
dcterms:description
"[While the skin manifestations are because of the PLEC1 mutation, footprints of mutations in PLEC1 and CHRNE are present at the neuromuscular junction of the patient indicating that abnormalities in both genes contribute to the CMS phenotype.]. 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:21175599
;
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:NP860792.RA_cG1h-pmRmMv7r1QSTcL6aytxL8zeQDdwJC6tWh_pts130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:15+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" .
}