@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP835167.RAU2jw58UTen9FEcHvzM1BlqM5EfPZYtViLRKnOM3KxEw
> .
@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:NP835167.RAU2jw58UTen9FEcHvzM1BlqM5EfPZYtViLRKnOM3KxEw130_head
{
this:
np:hasAssertion
dgn-np:NP835167.RAU2jw58UTen9FEcHvzM1BlqM5EfPZYtViLRKnOM3KxEw130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP835167.RAU2jw58UTen9FEcHvzM1BlqM5EfPZYtViLRKnOM3KxEw130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP835167.RAU2jw58UTen9FEcHvzM1BlqM5EfPZYtViLRKnOM3KxEw130_assertion
a
np:Assertion
.
dgn-np:NP835167.RAU2jw58UTen9FEcHvzM1BlqM5EfPZYtViLRKnOM3KxEw130_provenance
a
np:Provenance
.
dgn-np:NP835167.RAU2jw58UTen9FEcHvzM1BlqM5EfPZYtViLRKnOM3KxEw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP835167.RAU2jw58UTen9FEcHvzM1BlqM5EfPZYtViLRKnOM3KxEw130_assertion
{
miriam-gene:10020
a
ncit:C16612
.
lld:C1096903
a
ncit:C7057
.
dgn-gda:DGNaec9616571520ff23af7762a740ecea8
sio:SIO_000628
miriam-gene:10020
,
lld:C1096903
;
a
sio:SIO_001121
.
}
dgn-np:NP835167.RAU2jw58UTen9FEcHvzM1BlqM5EfPZYtViLRKnOM3KxEw130_provenance
{
dgn-np:NP835167.RAU2jw58UTen9FEcHvzM1BlqM5EfPZYtViLRKnOM3KxEw130_assertion
dcterms:description
"[Mutations associated with sialuria are located in the epimerase domain, and those associated with IBM2 are in the epimerase or the kinase domain or both, whereas the mutations we observed in the Nonaka myopathy patients were located in the sugar kinase domain of the gene.]. 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:11916006
;
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 .
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dgn-np:NP835167.RAU2jw58UTen9FEcHvzM1BlqM5EfPZYtViLRKnOM3KxEw130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:46:07+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
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;
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" .
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pav:version
"v3.0.0" .
}