@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP865162.RAiggrQNfGeBoqE_BirKJOazPYjlk_AlsT3qlSV2Sqjfo
> .
@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:NP865162.RAiggrQNfGeBoqE_BirKJOazPYjlk_AlsT3qlSV2Sqjfo130_head
{
this:
np:hasAssertion
dgn-np:NP865162.RAiggrQNfGeBoqE_BirKJOazPYjlk_AlsT3qlSV2Sqjfo130_assertion
;
np:hasProvenance
dgn-np:NP865162.RAiggrQNfGeBoqE_BirKJOazPYjlk_AlsT3qlSV2Sqjfo130_provenance
;
np:hasPublicationInfo
dgn-np:NP865162.RAiggrQNfGeBoqE_BirKJOazPYjlk_AlsT3qlSV2Sqjfo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP865162.RAiggrQNfGeBoqE_BirKJOazPYjlk_AlsT3qlSV2Sqjfo130_assertion
a
np:Assertion
.
dgn-np:NP865162.RAiggrQNfGeBoqE_BirKJOazPYjlk_AlsT3qlSV2Sqjfo130_provenance
a
np:Provenance
.
dgn-np:NP865162.RAiggrQNfGeBoqE_BirKJOazPYjlk_AlsT3qlSV2Sqjfo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP865162.RAiggrQNfGeBoqE_BirKJOazPYjlk_AlsT3qlSV2Sqjfo130_assertion
{
miriam-gene:2744
a
ncit:C16612
.
lld:C0011860
a
ncit:C7057
.
dgn-gda:DGN4eb3716d0cab5149a07bfca6a76d1ca4
sio:SIO_000628
miriam-gene:2744
,
lld:C0011860
;
a
sio:SIO_001121
.
}
dgn-np:NP865162.RAiggrQNfGeBoqE_BirKJOazPYjlk_AlsT3qlSV2Sqjfo130_provenance
{
dgn-np:NP865162.RAiggrQNfGeBoqE_BirKJOazPYjlk_AlsT3qlSV2Sqjfo130_assertion
dcterms:description
"[Six sequence variations were detected in the NIDDM subjects; four silent polymorphisms [GAT vs GAC at codon 251 in exon 7, AAT vs AAC at codon 692 in exon 15, CCG vs CCC at codon 736 in exon 15, and CTG vs CTA at codon 766 in exon 16]; a single base change [T-->C], 22 base pairs distal to the exon-intron junction of exon 17 in the 5'-splice donor; and a single amino acid substitution [Gln142-->His] in exon 4, which was identified in 6 of the 15 NIDDM subjects.]. 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:8721778
;
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:NP865162.RAiggrQNfGeBoqE_BirKJOazPYjlk_AlsT3qlSV2Sqjfo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:49+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" .
}