@prefix bfo: <
http://purl.obolibrary.org/obo/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP261667.RAJY-J589vJMcrngwSSLKQfveso1ot4SxSes9tRz_-15U
> .
@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 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:NP261667.RAJY-J589vJMcrngwSSLKQfveso1ot4SxSes9tRz_-15U130_head
{
this:
np:hasAssertion
dgn-np:NP261667.RAJY-J589vJMcrngwSSLKQfveso1ot4SxSes9tRz_-15U130_assertion
;
np:hasProvenance
dgn-np:NP261667.RAJY-J589vJMcrngwSSLKQfveso1ot4SxSes9tRz_-15U130_provenance
;
np:hasPublicationInfo
dgn-np:NP261667.RAJY-J589vJMcrngwSSLKQfveso1ot4SxSes9tRz_-15U130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP261667.RAJY-J589vJMcrngwSSLKQfveso1ot4SxSes9tRz_-15U130_assertion
a
np:Assertion
.
dgn-np:NP261667.RAJY-J589vJMcrngwSSLKQfveso1ot4SxSes9tRz_-15U130_provenance
a
np:Provenance
.
dgn-np:NP261667.RAJY-J589vJMcrngwSSLKQfveso1ot4SxSes9tRz_-15U130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP261667.RAJY-J589vJMcrngwSSLKQfveso1ot4SxSes9tRz_-15U130_assertion
{
miriam-gene:5741
a
ncit:C16612
.
lld:C0020437
a
ncit:C7057
.
dgn-gda:DGN6514ebf3503a90454cedee5523fff288
sio:SIO_000628
miriam-gene:5741
,
lld:C0020437
;
a
sio:SIO_001121
.
}
dgn-np:NP261667.RAJY-J589vJMcrngwSSLKQfveso1ot4SxSes9tRz_-15U130_provenance
{
dgn-np:NP261667.RAJY-J589vJMcrngwSSLKQfveso1ot4SxSes9tRz_-15U130_assertion
dcterms:description
"[These results indicate that serum Ca and PTH levels are determined by residual function of mutant CaSR in patients with homozygous mutation in CaSR, and that patients having homozygous mutant CaSRs with mild dysfunction do not suffer from fatal hypercalcaemia in infancy and can survive into adulthood.]. 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:10468915
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
bfo:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
xsd:date
.
dgn-void:source_evidence_literature
a
bfo:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP261667.RAJY-J589vJMcrngwSSLKQfveso1ot4SxSes9tRz_-15U130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:44+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" .
}