@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1362955.RABcr0ygaNx8U_rW_WjatIQme1Vhq0GsRrOftuTgnm0SI
> .
@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:NP1362955.RABcr0ygaNx8U_rW_WjatIQme1Vhq0GsRrOftuTgnm0SI130_head
{
this:
np:hasAssertion
dgn-np:NP1362955.RABcr0ygaNx8U_rW_WjatIQme1Vhq0GsRrOftuTgnm0SI130_assertion
;
np:hasProvenance
dgn-np:NP1362955.RABcr0ygaNx8U_rW_WjatIQme1Vhq0GsRrOftuTgnm0SI130_provenance
;
np:hasPublicationInfo
dgn-np:NP1362955.RABcr0ygaNx8U_rW_WjatIQme1Vhq0GsRrOftuTgnm0SI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1362955.RABcr0ygaNx8U_rW_WjatIQme1Vhq0GsRrOftuTgnm0SI130_assertion
a
np:Assertion
.
dgn-np:NP1362955.RABcr0ygaNx8U_rW_WjatIQme1Vhq0GsRrOftuTgnm0SI130_provenance
a
np:Provenance
.
dgn-np:NP1362955.RABcr0ygaNx8U_rW_WjatIQme1Vhq0GsRrOftuTgnm0SI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1362955.RABcr0ygaNx8U_rW_WjatIQme1Vhq0GsRrOftuTgnm0SI130_assertion
{
miriam-gene:6521
a
ncit:C16612
.
lld:C0019202
a
ncit:C7057
.
dgn-gda:DGNeef849f6401ac76609e218ace54536c2
sio:SIO_000628
miriam-gene:6521
,
lld:C0019202
;
a
sio:SIO_001121
.
}
dgn-np:NP1362955.RABcr0ygaNx8U_rW_WjatIQme1Vhq0GsRrOftuTgnm0SI130_provenance
{
dgn-np:NP1362955.RABcr0ygaNx8U_rW_WjatIQme1Vhq0GsRrOftuTgnm0SI130_assertion
dcterms:description
"[This study reports 12 novel mutations of the Wilson disease (WD) gene which have been detected by the molecular analysis of 29 patients of Mediterranean descent carrying uncommon chromosomal haplotypes at the WD locus.]. 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:8931691
;
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:NP1362955.RABcr0ygaNx8U_rW_WjatIQme1Vhq0GsRrOftuTgnm0SI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:04+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" .
}