@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP486442.RAzua1bbYsRhvCm6enJKdzip0wugy339HQkrZVFJwP2r0
> .
@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:NP486442.RAzua1bbYsRhvCm6enJKdzip0wugy339HQkrZVFJwP2r0130_head
{
this:
np:hasAssertion
dgn-np:NP486442.RAzua1bbYsRhvCm6enJKdzip0wugy339HQkrZVFJwP2r0130_assertion
;
np:hasProvenance
dgn-np:NP486442.RAzua1bbYsRhvCm6enJKdzip0wugy339HQkrZVFJwP2r0130_provenance
;
np:hasPublicationInfo
dgn-np:NP486442.RAzua1bbYsRhvCm6enJKdzip0wugy339HQkrZVFJwP2r0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP486442.RAzua1bbYsRhvCm6enJKdzip0wugy339HQkrZVFJwP2r0130_assertion
a
np:Assertion
.
dgn-np:NP486442.RAzua1bbYsRhvCm6enJKdzip0wugy339HQkrZVFJwP2r0130_provenance
a
np:Provenance
.
dgn-np:NP486442.RAzua1bbYsRhvCm6enJKdzip0wugy339HQkrZVFJwP2r0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP486442.RAzua1bbYsRhvCm6enJKdzip0wugy339HQkrZVFJwP2r0130_assertion
{
miriam-gene:7952
a
ncit:C16612
.
lld:C3495427
a
ncit:C7057
.
dgn-gda:DGN0f6be5dd062f6e7a7c4e2e2b90af10bc
sio:SIO_000628
miriam-gene:7952
,
lld:C3495427
;
a
sio:SIO_001121
.
}
dgn-np:NP486442.RAzua1bbYsRhvCm6enJKdzip0wugy339HQkrZVFJwP2r0130_provenance
{
dgn-np:NP486442.RAzua1bbYsRhvCm6enJKdzip0wugy339HQkrZVFJwP2r0130_assertion
dcterms:description
"[SLC2A2 mutations are an autosomal recessive cause of neonatal diabetes that should be considered in consanguineous families or those with TNDM, after excluding common causes, even in the absence of features of FBS.]. 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:22660720
;
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:NP486442.RAzua1bbYsRhvCm6enJKdzip0wugy339HQkrZVFJwP2r0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:51+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" .
}