@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP405927.RAu52FKG7hlEoLn-pE29bDYA4U-x61BzxPNnBcwa57fjc
> .
@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:NP405927.RAu52FKG7hlEoLn-pE29bDYA4U-x61BzxPNnBcwa57fjc130_head
{
this:
np:hasAssertion
dgn-np:NP405927.RAu52FKG7hlEoLn-pE29bDYA4U-x61BzxPNnBcwa57fjc130_assertion
;
np:hasProvenance
dgn-np:NP405927.RAu52FKG7hlEoLn-pE29bDYA4U-x61BzxPNnBcwa57fjc130_provenance
;
np:hasPublicationInfo
dgn-np:NP405927.RAu52FKG7hlEoLn-pE29bDYA4U-x61BzxPNnBcwa57fjc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP405927.RAu52FKG7hlEoLn-pE29bDYA4U-x61BzxPNnBcwa57fjc130_assertion
a
np:Assertion
.
dgn-np:NP405927.RAu52FKG7hlEoLn-pE29bDYA4U-x61BzxPNnBcwa57fjc130_provenance
a
np:Provenance
.
dgn-np:NP405927.RAu52FKG7hlEoLn-pE29bDYA4U-x61BzxPNnBcwa57fjc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP405927.RAu52FKG7hlEoLn-pE29bDYA4U-x61BzxPNnBcwa57fjc130_assertion
{
miriam-gene:6002
a
ncit:C16612
.
lld:C0018021
a
ncit:C7057
.
dgn-gda:DGNad8020d4145b39116c192c8e97e3a1a0
sio:SIO_000628
miriam-gene:6002
,
lld:C0018021
;
a
sio:SIO_001121
.
}
dgn-np:NP405927.RAu52FKG7hlEoLn-pE29bDYA4U-x61BzxPNnBcwa57fjc130_provenance
{
dgn-np:NP405927.RAu52FKG7hlEoLn-pE29bDYA4U-x61BzxPNnBcwa57fjc130_assertion
dcterms:description
"[In one of the families, we found two rare heterozygous missense variants, p.V56M in RGS12 and p.G37D in GRPEL1, which segregate with goiter and are both located within the same haplotype on 4p16.]. 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:23535966
;
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:NP405927.RAu52FKG7hlEoLn-pE29bDYA4U-x61BzxPNnBcwa57fjc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:01+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" .
}