@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44
> .
@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:NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_head
{
this:
np:hasAssertion
dgn-np:NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_assertion
;
np:hasProvenance
dgn-np:NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_provenance
;
np:hasPublicationInfo
dgn-np:NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_assertion
a
np:Assertion
.
dgn-np:NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_provenance
a
np:Provenance
.
dgn-np:NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_assertion
{
miriam-gene:9289
a
ncit:C16612
.
lld:C0014544
a
ncit:C7057
.
dgn-gda:DGN0a1b1c5ab34d879530f7ab5fa2025f32
sio:SIO_000628
miriam-gene:9289
,
lld:C0014544
;
a
sio:SIO_001122
.
}
dgn-np:NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_provenance
{
dgn-np:NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_assertion
dcterms:description
"[This patient has a novel GPR56 mutation (R271X) and an unusual phenotype, because he presents hot water epilepsy.To the best of our knowledge, this is the first reported case of BFPP evolving hot water epilepsy.]. 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:25642806
;
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:NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:17+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" .
}