@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1319452.RAhUM-3osPh_HtZtaJpMt9fnrYIXK0gdQDKmMNRXu83VQ
> .
@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:NP1319452.RAhUM-3osPh_HtZtaJpMt9fnrYIXK0gdQDKmMNRXu83VQ130_head
{
this:
np:hasAssertion
dgn-np:NP1319452.RAhUM-3osPh_HtZtaJpMt9fnrYIXK0gdQDKmMNRXu83VQ130_assertion
;
np:hasProvenance
dgn-np:NP1319452.RAhUM-3osPh_HtZtaJpMt9fnrYIXK0gdQDKmMNRXu83VQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP1319452.RAhUM-3osPh_HtZtaJpMt9fnrYIXK0gdQDKmMNRXu83VQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1319452.RAhUM-3osPh_HtZtaJpMt9fnrYIXK0gdQDKmMNRXu83VQ130_assertion
a
np:Assertion
.
dgn-np:NP1319452.RAhUM-3osPh_HtZtaJpMt9fnrYIXK0gdQDKmMNRXu83VQ130_provenance
a
np:Provenance
.
dgn-np:NP1319452.RAhUM-3osPh_HtZtaJpMt9fnrYIXK0gdQDKmMNRXu83VQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1319452.RAhUM-3osPh_HtZtaJpMt9fnrYIXK0gdQDKmMNRXu83VQ130_assertion
{
miriam-gene:215
a
ncit:C16612
.
lld:C0162309
a
ncit:C7057
.
dgn-gda:DGNdb07800ade9746f8d4674aafba9125af
sio:SIO_000628
miriam-gene:215
,
lld:C0162309
;
a
sio:SIO_001121
.
}
dgn-np:NP1319452.RAhUM-3osPh_HtZtaJpMt9fnrYIXK0gdQDKmMNRXu83VQ130_provenance
{
dgn-np:NP1319452.RAhUM-3osPh_HtZtaJpMt9fnrYIXK0gdQDKmMNRXu83VQ130_assertion
dcterms:description
"[The disruptive nature of two mutations (i.e., the frameshift and the nonsense mutation) in patients with biochemically proved childhood ALD and AMN further strongly supports the hypothesis that alterations in this gene play a crucial role in the pathogenesis of X-ALD.]. 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:7717396
;
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:NP1319452.RAhUM-3osPh_HtZtaJpMt9fnrYIXK0gdQDKmMNRXu83VQ130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:44+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" .
}