@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U
> .
@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:NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U130_head
{
this:
np:hasAssertion
dgn-np:NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U130_assertion
;
np:hasProvenance
dgn-np:NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U130_provenance
;
np:hasPublicationInfo
dgn-np:NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U130_assertion
a
np:Assertion
.
dgn-np:NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U130_provenance
a
np:Provenance
.
dgn-np:NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U130_assertion
{
miriam-gene:43
a
ncit:C16612
.
lld:C0751882
a
ncit:C7057
.
dgn-gda:DGNedbe6cd14cae7d58f6f2873f5a9bd099
sio:SIO_000628
miriam-gene:43
,
lld:C0751882
;
a
sio:SIO_001121
.
}
dgn-np:NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U130_provenance
{
dgn-np:NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U130_assertion
dcterms:description
"[A synaptic CMS is caused by mutations in the collagenic tail subunit (ColQ) of the endplate species of acetylcholinesterase that prevent the tail subunit from associating with catalytic subunits or from becoming inserted 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:14592871
;
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:NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:55+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" .
}