@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP218105.RAMpBlSzVlnm_QlhJ8ISTENP4ZkoB8mSJkLcMlKdMh-94
> .
@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:NP218105.RAMpBlSzVlnm_QlhJ8ISTENP4ZkoB8mSJkLcMlKdMh-94130_head
{
this:
np:hasAssertion
dgn-np:NP218105.RAMpBlSzVlnm_QlhJ8ISTENP4ZkoB8mSJkLcMlKdMh-94130_assertion
;
np:hasProvenance
dgn-np:NP218105.RAMpBlSzVlnm_QlhJ8ISTENP4ZkoB8mSJkLcMlKdMh-94130_provenance
;
np:hasPublicationInfo
dgn-np:NP218105.RAMpBlSzVlnm_QlhJ8ISTENP4ZkoB8mSJkLcMlKdMh-94130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP218105.RAMpBlSzVlnm_QlhJ8ISTENP4ZkoB8mSJkLcMlKdMh-94130_assertion
a
np:Assertion
.
dgn-np:NP218105.RAMpBlSzVlnm_QlhJ8ISTENP4ZkoB8mSJkLcMlKdMh-94130_provenance
a
np:Provenance
.
dgn-np:NP218105.RAMpBlSzVlnm_QlhJ8ISTENP4ZkoB8mSJkLcMlKdMh-94130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP218105.RAMpBlSzVlnm_QlhJ8ISTENP4ZkoB8mSJkLcMlKdMh-94130_assertion
{
miriam-gene:5339
a
ncit:C16612
.
lld:C0037285
a
ncit:C7057
.
dgn-gda:DGNa3c89fea9a556d69b6e207ac5b1bf64b
sio:SIO_000628
miriam-gene:5339
,
lld:C0037285
;
a
sio:SIO_001121
.
}
dgn-np:NP218105.RAMpBlSzVlnm_QlhJ8ISTENP4ZkoB8mSJkLcMlKdMh-94130_provenance
{
dgn-np:NP218105.RAMpBlSzVlnm_QlhJ8ISTENP4ZkoB8mSJkLcMlKdMh-94130_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-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:NP218105.RAMpBlSzVlnm_QlhJ8ISTENP4ZkoB8mSJkLcMlKdMh-94130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:01+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" .
}