@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP455799.RAxHEzQx3ym_2qo9psCGeiijbGBi-OXgFEGmC2ECb2Vmo
> .
@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:NP455799.RAxHEzQx3ym_2qo9psCGeiijbGBi-OXgFEGmC2ECb2Vmo130_head
{
this:
np:hasAssertion
dgn-np:NP455799.RAxHEzQx3ym_2qo9psCGeiijbGBi-OXgFEGmC2ECb2Vmo130_assertion
;
np:hasProvenance
dgn-np:NP455799.RAxHEzQx3ym_2qo9psCGeiijbGBi-OXgFEGmC2ECb2Vmo130_provenance
;
np:hasPublicationInfo
dgn-np:NP455799.RAxHEzQx3ym_2qo9psCGeiijbGBi-OXgFEGmC2ECb2Vmo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP455799.RAxHEzQx3ym_2qo9psCGeiijbGBi-OXgFEGmC2ECb2Vmo130_assertion
a
np:Assertion
.
dgn-np:NP455799.RAxHEzQx3ym_2qo9psCGeiijbGBi-OXgFEGmC2ECb2Vmo130_provenance
a
np:Provenance
.
dgn-np:NP455799.RAxHEzQx3ym_2qo9psCGeiijbGBi-OXgFEGmC2ECb2Vmo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP455799.RAxHEzQx3ym_2qo9psCGeiijbGBi-OXgFEGmC2ECb2Vmo130_assertion
{
miriam-gene:23230
a
ncit:C16612
.
lld:C0020179
a
ncit:C7057
.
dgn-gda:DGN9208de5c40adaa4dcd70a307e22a39b4
sio:SIO_000628
miriam-gene:23230
,
lld:C0020179
;
a
sio:SIO_001121
.
}
dgn-np:NP455799.RAxHEzQx3ym_2qo9psCGeiijbGBi-OXgFEGmC2ECb2Vmo130_provenance
{
dgn-np:NP455799.RAxHEzQx3ym_2qo9psCGeiijbGBi-OXgFEGmC2ECb2Vmo130_assertion
dcterms:description
"[To investigate chorein abnormalities of the skeletal muscles of ChAc patients with an apparently heterozygous VPS13A mutation compared with those of other hereditary choreic diseases, we performed histological and immunohistochemical studies of the skeletal muscles from 3 ChAc, 1 Huntington's disease (HD), 1 McLeod syndrome (MLS), and 1 normal control (NC) with 2 originally generated anti-chorein antibodies.]. 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:17345646
;
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:NP455799.RAxHEzQx3ym_2qo9psCGeiijbGBi-OXgFEGmC2ECb2Vmo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:31+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" .
}