@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP221157.RA1FvM8p0pWelOmdUnoHbETqnhF52UpEuFHzJt2PM7HTE
> .
@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:NP221157.RA1FvM8p0pWelOmdUnoHbETqnhF52UpEuFHzJt2PM7HTE130_head
{
this:
np:hasAssertion
dgn-np:NP221157.RA1FvM8p0pWelOmdUnoHbETqnhF52UpEuFHzJt2PM7HTE130_assertion
;
np:hasProvenance
dgn-np:NP221157.RA1FvM8p0pWelOmdUnoHbETqnhF52UpEuFHzJt2PM7HTE130_provenance
;
np:hasPublicationInfo
dgn-np:NP221157.RA1FvM8p0pWelOmdUnoHbETqnhF52UpEuFHzJt2PM7HTE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP221157.RA1FvM8p0pWelOmdUnoHbETqnhF52UpEuFHzJt2PM7HTE130_assertion
a
np:Assertion
.
dgn-np:NP221157.RA1FvM8p0pWelOmdUnoHbETqnhF52UpEuFHzJt2PM7HTE130_provenance
a
np:Provenance
.
dgn-np:NP221157.RA1FvM8p0pWelOmdUnoHbETqnhF52UpEuFHzJt2PM7HTE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP221157.RA1FvM8p0pWelOmdUnoHbETqnhF52UpEuFHzJt2PM7HTE130_assertion
{
miriam-gene:5979
a
ncit:C16612
.
lld:C0020437
a
ncit:C7057
.
dgn-gda:DGN656ea1e4fb477bf38d3c9598dc8eaeea
sio:SIO_000628
miriam-gene:5979
,
lld:C0020437
;
a
sio:SIO_001122
.
}
dgn-np:NP221157.RA1FvM8p0pWelOmdUnoHbETqnhF52UpEuFHzJt2PM7HTE130_provenance
{
dgn-np:NP221157.RA1FvM8p0pWelOmdUnoHbETqnhF52UpEuFHzJt2PM7HTE130_assertion
dcterms:description
"[The molecular basis for HPT has been further elucidated by teh detection of inactivating germline mutations in the CaSR gene in familial hypocalciuric hypercalcemia syndrome and in the RET genes in the familial forms of HPT.]. 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:17138574
;
prov:wasDerivedFrom
dgn-void:lhgdn-20090331
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:lhgdn-20090331
pav:importedOn
"2009-03-31"^^
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:NP221157.RA1FvM8p0pWelOmdUnoHbETqnhF52UpEuFHzJt2PM7HTE130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:26+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" .
}