@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1321.RAakbRUv70iY22mEwVlXJbsEVp7Srl98TW6gI8XVP9WRo
> .
@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 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:NP1321.RAakbRUv70iY22mEwVlXJbsEVp7Srl98TW6gI8XVP9WRo130_head
{
this:
np:hasAssertion
dgn-np:NP1321.RAakbRUv70iY22mEwVlXJbsEVp7Srl98TW6gI8XVP9WRo130_assertion
;
np:hasProvenance
dgn-np:NP1321.RAakbRUv70iY22mEwVlXJbsEVp7Srl98TW6gI8XVP9WRo130_provenance
;
np:hasPublicationInfo
dgn-np:NP1321.RAakbRUv70iY22mEwVlXJbsEVp7Srl98TW6gI8XVP9WRo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1321.RAakbRUv70iY22mEwVlXJbsEVp7Srl98TW6gI8XVP9WRo130_assertion
a
np:Assertion
.
dgn-np:NP1321.RAakbRUv70iY22mEwVlXJbsEVp7Srl98TW6gI8XVP9WRo130_provenance
a
np:Provenance
.
dgn-np:NP1321.RAakbRUv70iY22mEwVlXJbsEVp7Srl98TW6gI8XVP9WRo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1321.RAakbRUv70iY22mEwVlXJbsEVp7Srl98TW6gI8XVP9WRo130_assertion
{
miriam-gene:3145
a
ncit:C16612
.
lld:C0162565
a
ncit:C7057
.
dgn-gda:DGNde063e0ac9dc6d02c60c03b6c672a97e
sio:SIO_000628
miriam-gene:3145
,
lld:C0162565
;
a
sio:SIO_001122
.
}
dgn-np:NP1321.RAakbRUv70iY22mEwVlXJbsEVp7Srl98TW6gI8XVP9WRo130_provenance
{
dgn-np:NP1321.RAakbRUv70iY22mEwVlXJbsEVp7Srl98TW6gI8XVP9WRo130_assertion
dc:description
"[To study the origin of these common CpG mutations, eight intragenic single-nucleotide polymorphisms (SNPs) in the PBGD gene, as well as eight microsatellites flanking the gene in chromosome 11 were used to construct haplotypes in six AIP families of German, Polish and Swiss origins who carried either G111R (4707G>A) or R173Q (6391G>A) mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:15669678
;
prov:wasDerivedFrom
dgn-void:uniprot-20150221
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20150221
pav:importedOn
"2015-02-21"^^
xsd:date
.
}
dgn-np:NP1321.RAakbRUv70iY22mEwVlXJbsEVp7Srl98TW6gI8XVP9WRo130_publicationInfo
{
this:
dc:created
"2015-08-25T14:37:42+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
pav:authoredBy
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}