@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP664070.RA25Md1s5VY57_orrTs49NnfRUqxwvQl8ZDa02gHzArZ4
> .
@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:NP664070.RA25Md1s5VY57_orrTs49NnfRUqxwvQl8ZDa02gHzArZ4130_head
{
this:
np:hasAssertion
dgn-np:NP664070.RA25Md1s5VY57_orrTs49NnfRUqxwvQl8ZDa02gHzArZ4130_assertion
;
np:hasProvenance
dgn-np:NP664070.RA25Md1s5VY57_orrTs49NnfRUqxwvQl8ZDa02gHzArZ4130_provenance
;
np:hasPublicationInfo
dgn-np:NP664070.RA25Md1s5VY57_orrTs49NnfRUqxwvQl8ZDa02gHzArZ4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP664070.RA25Md1s5VY57_orrTs49NnfRUqxwvQl8ZDa02gHzArZ4130_assertion
a
np:Assertion
.
dgn-np:NP664070.RA25Md1s5VY57_orrTs49NnfRUqxwvQl8ZDa02gHzArZ4130_provenance
a
np:Provenance
.
dgn-np:NP664070.RA25Md1s5VY57_orrTs49NnfRUqxwvQl8ZDa02gHzArZ4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP664070.RA25Md1s5VY57_orrTs49NnfRUqxwvQl8ZDa02gHzArZ4130_assertion
{
miriam-gene:43
a
ncit:C16612
.
lld:C0751882
a
ncit:C7057
.
dgn-gda:DGNe4d42f0723bdc035535f48109d3e31d0
sio:SIO_000628
miriam-gene:43
,
lld:C0751882
;
a
sio:SIO_001121
.
}
dgn-np:NP664070.RA25Md1s5VY57_orrTs49NnfRUqxwvQl8ZDa02gHzArZ4130_provenance
{
dgn-np:NP664070.RA25Md1s5VY57_orrTs49NnfRUqxwvQl8ZDa02gHzArZ4130_assertion
dcterms:description
"[The synaptic CMS are caused by mutations in the collagenic tail subunit (ColQ) of the endplate species of acetylcholinesterase that prevent ColQ from associating with catalytic subunits or from insertion into the synaptic basal lamina.]. 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:11898587
;
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:NP664070.RA25Md1s5VY57_orrTs49NnfRUqxwvQl8ZDa02gHzArZ4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:41+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" .
}