@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP339773.RAVvLpqoETtbxyAg4fNpTkglz2q-wUM33WoN1FvVtr5Rs
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP339773.RAVvLpqoETtbxyAg4fNpTkglz2q-wUM33WoN1FvVtr5Rs130_head
{
this:
np:hasAssertion
dgn-np:NP339773.RAVvLpqoETtbxyAg4fNpTkglz2q-wUM33WoN1FvVtr5Rs130_assertion
;
np:hasProvenance
dgn-np:NP339773.RAVvLpqoETtbxyAg4fNpTkglz2q-wUM33WoN1FvVtr5Rs130_provenance
;
np:hasPublicationInfo
dgn-np:NP339773.RAVvLpqoETtbxyAg4fNpTkglz2q-wUM33WoN1FvVtr5Rs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP339773.RAVvLpqoETtbxyAg4fNpTkglz2q-wUM33WoN1FvVtr5Rs130_assertion
a
np:Assertion
.
dgn-np:NP339773.RAVvLpqoETtbxyAg4fNpTkglz2q-wUM33WoN1FvVtr5Rs130_provenance
a
np:Provenance
.
dgn-np:NP339773.RAVvLpqoETtbxyAg4fNpTkglz2q-wUM33WoN1FvVtr5Rs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP339773.RAVvLpqoETtbxyAg4fNpTkglz2q-wUM33WoN1FvVtr5Rs130_assertion
{
miriam-gene:6510
a
ncit:C16612
.
lld:C0342342
a
ncit:C7057
.
dgn-gda:DGNa10791d3bf402dd23df21e5b26693434
sio:SIO_000628
miriam-gene:6510
,
lld:C0342342
;
a
sio:SIO_001121
.
}
dgn-np:NP339773.RAVvLpqoETtbxyAg4fNpTkglz2q-wUM33WoN1FvVtr5Rs130_provenance
{
dgn-np:NP339773.RAVvLpqoETtbxyAg4fNpTkglz2q-wUM33WoN1FvVtr5Rs130_assertion
dcterms:description
"[We have identified a polymorphic tetranucleotide consisting of (AAAT)n within the first intron of the parathyroid hormone (PTH) gene, and have used this to investigate the segregation of the PTH gene and idiopathic hypoparathyroidism in 7 affected and 21 unaffected members from three families.]. 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:8478012
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP339773.RAVvLpqoETtbxyAg4fNpTkglz2q-wUM33WoN1FvVtr5Rs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:20+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}