@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1021891.RAZbOLiqaYcG__rwxh8wCDQM1eQCxXg2p76vnWzdeZwrc
> .
@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:NP1021891.RAZbOLiqaYcG__rwxh8wCDQM1eQCxXg2p76vnWzdeZwrc130_head
{
this:
np:hasAssertion
dgn-np:NP1021891.RAZbOLiqaYcG__rwxh8wCDQM1eQCxXg2p76vnWzdeZwrc130_assertion
;
np:hasProvenance
dgn-np:NP1021891.RAZbOLiqaYcG__rwxh8wCDQM1eQCxXg2p76vnWzdeZwrc130_provenance
;
np:hasPublicationInfo
dgn-np:NP1021891.RAZbOLiqaYcG__rwxh8wCDQM1eQCxXg2p76vnWzdeZwrc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1021891.RAZbOLiqaYcG__rwxh8wCDQM1eQCxXg2p76vnWzdeZwrc130_assertion
a
np:Assertion
.
dgn-np:NP1021891.RAZbOLiqaYcG__rwxh8wCDQM1eQCxXg2p76vnWzdeZwrc130_provenance
a
np:Provenance
.
dgn-np:NP1021891.RAZbOLiqaYcG__rwxh8wCDQM1eQCxXg2p76vnWzdeZwrc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1021891.RAZbOLiqaYcG__rwxh8wCDQM1eQCxXg2p76vnWzdeZwrc130_assertion
{
miriam-gene:2778
a
ncit:C16612
.
lld:C0033806
a
ncit:C7057
.
dgn-gda:DGNfd88c446e6359c51f9daadb77f7e2e7b
sio:SIO_000628
miriam-gene:2778
,
lld:C0033806
;
a
sio:SIO_001121
.
}
dgn-np:NP1021891.RAZbOLiqaYcG__rwxh8wCDQM1eQCxXg2p76vnWzdeZwrc130_provenance
{
dgn-np:NP1021891.RAZbOLiqaYcG__rwxh8wCDQM1eQCxXg2p76vnWzdeZwrc130_assertion
dcterms:description
"[Patients with PHP 1a have heterozygous mutations within the exons of the maternal GNAS allele that encode Gα(s), whereas patients with PHP 1b have methylation defects in the GNAS locus that reduce transcription of Gα(s) from the maternal allele.]. 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:23076042
;
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:NP1021891.RAZbOLiqaYcG__rwxh8wCDQM1eQCxXg2p76vnWzdeZwrc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:29+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" .
}