@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP397590.RA4EjZF_1ZpwTGG69Jy1MkrDs5A3BpHOVhvizOeWkimfA
> .
@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/v3.0.0/void/
> .
dgn-np:NP397590.RA4EjZF_1ZpwTGG69Jy1MkrDs5A3BpHOVhvizOeWkimfA130_head
{
this:
np:hasAssertion
dgn-np:NP397590.RA4EjZF_1ZpwTGG69Jy1MkrDs5A3BpHOVhvizOeWkimfA130_assertion
;
np:hasProvenance
dgn-np:NP397590.RA4EjZF_1ZpwTGG69Jy1MkrDs5A3BpHOVhvizOeWkimfA130_provenance
;
np:hasPublicationInfo
dgn-np:NP397590.RA4EjZF_1ZpwTGG69Jy1MkrDs5A3BpHOVhvizOeWkimfA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP397590.RA4EjZF_1ZpwTGG69Jy1MkrDs5A3BpHOVhvizOeWkimfA130_assertion
a
np:Assertion
.
dgn-np:NP397590.RA4EjZF_1ZpwTGG69Jy1MkrDs5A3BpHOVhvizOeWkimfA130_provenance
a
np:Provenance
.
dgn-np:NP397590.RA4EjZF_1ZpwTGG69Jy1MkrDs5A3BpHOVhvizOeWkimfA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP397590.RA4EjZF_1ZpwTGG69Jy1MkrDs5A3BpHOVhvizOeWkimfA130_assertion
{
miriam-gene:2218
a
ncit:C16612
.
lld:C0026850
a
ncit:C7057
.
dgn-gda:DGNc4122ee0edb12af47239c33db2a93829
sio:SIO_000628
miriam-gene:2218
,
lld:C0026850
;
a
sio:SIO_001121
.
}
dgn-np:NP397590.RA4EjZF_1ZpwTGG69Jy1MkrDs5A3BpHOVhvizOeWkimfA130_provenance
{
dgn-np:NP397590.RA4EjZF_1ZpwTGG69Jy1MkrDs5A3BpHOVhvizOeWkimfA130_assertion
dcterms:description
"[To assess the range and severity of brain involvement, as assessed by magnetic resonance imaging, in 27 patients with mutations in POMT1 (4), POMT2 (9), POMGnT1 (7), Fukutin (4), or LARGE (3), responsible for muscular dystrophies with abnormal glycosylation of dystroglycan (dystroglycanopathies).]. 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:19067344
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP397590.RA4EjZF_1ZpwTGG69Jy1MkrDs5A3BpHOVhvizOeWkimfA130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:41:31+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: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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}