@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP133245.RA13Bfuxv1IicONKDQPyFBg2vEbfZcmrbwvJU-6vFMGfM
> .
@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/v3.0.0/void/
> .
dgn-np:NP133245.RA13Bfuxv1IicONKDQPyFBg2vEbfZcmrbwvJU-6vFMGfM130_head
{
this:
np:hasAssertion
dgn-np:NP133245.RA13Bfuxv1IicONKDQPyFBg2vEbfZcmrbwvJU-6vFMGfM130_assertion
;
np:hasProvenance
dgn-np:NP133245.RA13Bfuxv1IicONKDQPyFBg2vEbfZcmrbwvJU-6vFMGfM130_provenance
;
np:hasPublicationInfo
dgn-np:NP133245.RA13Bfuxv1IicONKDQPyFBg2vEbfZcmrbwvJU-6vFMGfM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP133245.RA13Bfuxv1IicONKDQPyFBg2vEbfZcmrbwvJU-6vFMGfM130_assertion
a
np:Assertion
.
dgn-np:NP133245.RA13Bfuxv1IicONKDQPyFBg2vEbfZcmrbwvJU-6vFMGfM130_provenance
a
np:Provenance
.
dgn-np:NP133245.RA13Bfuxv1IicONKDQPyFBg2vEbfZcmrbwvJU-6vFMGfM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP133245.RA13Bfuxv1IicONKDQPyFBg2vEbfZcmrbwvJU-6vFMGfM130_assertion
{
miriam-gene:3767
a
ncit:C16612
.
lld:C0020459
a
ncit:C7057
.
dgn-gda:DGN039c35ef0099394e6ba6713cc0be2b6e
sio:SIO_000628
miriam-gene:3767
,
lld:C0020459
;
a
sio:SIO_001122
.
}
dgn-np:NP133245.RA13Bfuxv1IicONKDQPyFBg2vEbfZcmrbwvJU-6vFMGfM130_provenance
{
dgn-np:NP133245.RA13Bfuxv1IicONKDQPyFBg2vEbfZcmrbwvJU-6vFMGfM130_assertion
dcterms:description
"[In this large series, HNF4A mutations are the third most common cause of diazoxide responsive HH. We recommend that HNF4A sequencing is considered in all patients with diazoxide responsive HH diagnosed in the first week of life irrespective of a family hi]. 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:20164212
;
prov:wasDerivedFrom
dgn-void:gad-20150221
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20150221
pav:importedOn
"2015-02-21"^^
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:NP133245.RA13Bfuxv1IicONKDQPyFBg2vEbfZcmrbwvJU-6vFMGfM130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:38:55+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}