@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP256732.RAvZiJdCddRJAUerv0vtFstnxTrVZ0nBfdGjxNIufhEmM
> .
@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:NP256732.RAvZiJdCddRJAUerv0vtFstnxTrVZ0nBfdGjxNIufhEmM130_head
{
this:
np:hasAssertion
dgn-np:NP256732.RAvZiJdCddRJAUerv0vtFstnxTrVZ0nBfdGjxNIufhEmM130_assertion
;
np:hasProvenance
dgn-np:NP256732.RAvZiJdCddRJAUerv0vtFstnxTrVZ0nBfdGjxNIufhEmM130_provenance
;
np:hasPublicationInfo
dgn-np:NP256732.RAvZiJdCddRJAUerv0vtFstnxTrVZ0nBfdGjxNIufhEmM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP256732.RAvZiJdCddRJAUerv0vtFstnxTrVZ0nBfdGjxNIufhEmM130_assertion
a
np:Assertion
.
dgn-np:NP256732.RAvZiJdCddRJAUerv0vtFstnxTrVZ0nBfdGjxNIufhEmM130_provenance
a
np:Provenance
.
dgn-np:NP256732.RAvZiJdCddRJAUerv0vtFstnxTrVZ0nBfdGjxNIufhEmM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP256732.RAvZiJdCddRJAUerv0vtFstnxTrVZ0nBfdGjxNIufhEmM130_assertion
{
miriam-gene:5741
a
ncit:C16612
.
lld:C0020437
a
ncit:C7057
.
dgn-gda:DGNee347cf3092c41f01c66b75a76bcc99c
sio:SIO_000628
miriam-gene:5741
,
lld:C0020437
;
a
sio:SIO_001121
.
}
dgn-np:NP256732.RAvZiJdCddRJAUerv0vtFstnxTrVZ0nBfdGjxNIufhEmM130_provenance
{
dgn-np:NP256732.RAvZiJdCddRJAUerv0vtFstnxTrVZ0nBfdGjxNIufhEmM130_assertion
dcterms:description
"[The same mutation pattern was seen in both the proband's younger brother and cousin diagnosed as MEN1, and was also observed in the son of the cousin who showed signs of normal levels of serum PTH associated with mild hypercalcemia and hypophosphatemia.]. 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:10395246
;
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:NP256732.RAvZiJdCddRJAUerv0vtFstnxTrVZ0nBfdGjxNIufhEmM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:42+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" .
}