@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP288522.RA9CHZehL5_-J73a5KR0t2TF5h9SgJNMeYGGcvZsN7ulA
> .
@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:NP288522.RA9CHZehL5_-J73a5KR0t2TF5h9SgJNMeYGGcvZsN7ulA130_head
{
this:
np:hasAssertion
dgn-np:NP288522.RA9CHZehL5_-J73a5KR0t2TF5h9SgJNMeYGGcvZsN7ulA130_assertion
;
np:hasProvenance
dgn-np:NP288522.RA9CHZehL5_-J73a5KR0t2TF5h9SgJNMeYGGcvZsN7ulA130_provenance
;
np:hasPublicationInfo
dgn-np:NP288522.RA9CHZehL5_-J73a5KR0t2TF5h9SgJNMeYGGcvZsN7ulA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP288522.RA9CHZehL5_-J73a5KR0t2TF5h9SgJNMeYGGcvZsN7ulA130_assertion
a
np:Assertion
.
dgn-np:NP288522.RA9CHZehL5_-J73a5KR0t2TF5h9SgJNMeYGGcvZsN7ulA130_provenance
a
np:Provenance
.
dgn-np:NP288522.RA9CHZehL5_-J73a5KR0t2TF5h9SgJNMeYGGcvZsN7ulA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP288522.RA9CHZehL5_-J73a5KR0t2TF5h9SgJNMeYGGcvZsN7ulA130_assertion
{
miriam-gene:2645
a
ncit:C16612
.
lld:C1841962
a
ncit:C7057
.
dgn-gda:DGN31a23e6c84cc69765a01fd80ab4c40a9
sio:SIO_000628
miriam-gene:2645
,
lld:C1841962
;
a
sio:SIO_001121
.
}
dgn-np:NP288522.RA9CHZehL5_-J73a5KR0t2TF5h9SgJNMeYGGcvZsN7ulA130_provenance
{
dgn-np:NP288522.RA9CHZehL5_-J73a5KR0t2TF5h9SgJNMeYGGcvZsN7ulA130_assertion
dcterms:description
"[In this study 100 diabetic Jordanian patients with MODY2 phenotype and 150 Normal control subjects were screened for the presence of GCK gene mutations including the missense mutations at position Thr228Ala in exon 7, Gly299Arg in exon 8 and nonsense mutation Ser383Ter in exon 9, utilizing polymerase chain reaction with restriction fragment length polymorphism (PCR-RFLP) analysis.]. 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:20458967
;
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:NP288522.RA9CHZehL5_-J73a5KR0t2TF5h9SgJNMeYGGcvZsN7ulA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:44+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" .
}