@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP917858.RAU-PO63D_e-S9x5nh69wdVnSkkAo-gSm5MHyEMqJHzRU
> .
@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:NP917858.RAU-PO63D_e-S9x5nh69wdVnSkkAo-gSm5MHyEMqJHzRU130_head
{
this:
np:hasAssertion
dgn-np:NP917858.RAU-PO63D_e-S9x5nh69wdVnSkkAo-gSm5MHyEMqJHzRU130_assertion
;
np:hasProvenance
dgn-np:NP917858.RAU-PO63D_e-S9x5nh69wdVnSkkAo-gSm5MHyEMqJHzRU130_provenance
;
np:hasPublicationInfo
dgn-np:NP917858.RAU-PO63D_e-S9x5nh69wdVnSkkAo-gSm5MHyEMqJHzRU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP917858.RAU-PO63D_e-S9x5nh69wdVnSkkAo-gSm5MHyEMqJHzRU130_assertion
a
np:Assertion
.
dgn-np:NP917858.RAU-PO63D_e-S9x5nh69wdVnSkkAo-gSm5MHyEMqJHzRU130_provenance
a
np:Provenance
.
dgn-np:NP917858.RAU-PO63D_e-S9x5nh69wdVnSkkAo-gSm5MHyEMqJHzRU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP917858.RAU-PO63D_e-S9x5nh69wdVnSkkAo-gSm5MHyEMqJHzRU130_assertion
{
miriam-gene:55294
a
ncit:C16612
.
lld:C0206368
a
ncit:C7057
.
dgn-gda:DGNdd9531224bebb50d3136b66b45014500
sio:SIO_000628
miriam-gene:55294
,
lld:C0206368
;
a
sio:SIO_001121
.
}
dgn-np:NP917858.RAU-PO63D_e-S9x5nh69wdVnSkkAo-gSm5MHyEMqJHzRU130_provenance
{
dgn-np:NP917858.RAU-PO63D_e-S9x5nh69wdVnSkkAo-gSm5MHyEMqJHzRU130_assertion
dcterms:description
"[A genome-wide scan with 1000 microsatellite markers was performed in an extended family from an island in the southwestern Finnish archipelago where XFS demonstrates an autosomal dominant mode of inheritance with incomplete penetrance.]. 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:17724198
;
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:NP917858.RAU-PO63D_e-S9x5nh69wdVnSkkAo-gSm5MHyEMqJHzRU130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:00+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" .
}