@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP203864.RADdn-7b5hm60I-EHr48yL2ckVHSisf1YCFjAMlsdPl2E
> .
@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:NP203864.RADdn-7b5hm60I-EHr48yL2ckVHSisf1YCFjAMlsdPl2E130_head
{
this:
np:hasAssertion
dgn-np:NP203864.RADdn-7b5hm60I-EHr48yL2ckVHSisf1YCFjAMlsdPl2E130_assertion
;
np:hasProvenance
dgn-np:NP203864.RADdn-7b5hm60I-EHr48yL2ckVHSisf1YCFjAMlsdPl2E130_provenance
;
np:hasPublicationInfo
dgn-np:NP203864.RADdn-7b5hm60I-EHr48yL2ckVHSisf1YCFjAMlsdPl2E130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP203864.RADdn-7b5hm60I-EHr48yL2ckVHSisf1YCFjAMlsdPl2E130_assertion
a
np:Assertion
.
dgn-np:NP203864.RADdn-7b5hm60I-EHr48yL2ckVHSisf1YCFjAMlsdPl2E130_provenance
a
np:Provenance
.
dgn-np:NP203864.RADdn-7b5hm60I-EHr48yL2ckVHSisf1YCFjAMlsdPl2E130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP203864.RADdn-7b5hm60I-EHr48yL2ckVHSisf1YCFjAMlsdPl2E130_assertion
{
miriam-gene:1605
a
ncit:C16612
.
lld:C0265221
a
ncit:C7057
.
dgn-gda:DGNc9161885e8fdc69c2fe8b6765b1e5a49
sio:SIO_000628
miriam-gene:1605
,
lld:C0265221
;
a
sio:SIO_001121
.
}
dgn-np:NP203864.RADdn-7b5hm60I-EHr48yL2ckVHSisf1YCFjAMlsdPl2E130_provenance
{
dgn-np:NP203864.RADdn-7b5hm60I-EHr48yL2ckVHSisf1YCFjAMlsdPl2E130_assertion
dcterms:description
"[These findings demonstrate the central role of dystroglycan in WWS and suggest that novel defects in posttranslational processing or mutations of the dystroglycan gene itself may underlie cases in which no causative mutation has been found.]. 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:18923033
;
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:NP203864.RADdn-7b5hm60I-EHr48yL2ckVHSisf1YCFjAMlsdPl2E130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:52+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" .
}