@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP184911.RAxux6Y1mdxs2hlLBN83gcZ1bCUguyo4SPb3HLCSKYgVU
> .
@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:NP184911.RAxux6Y1mdxs2hlLBN83gcZ1bCUguyo4SPb3HLCSKYgVU130_head
{
this:
np:hasAssertion
dgn-np:NP184911.RAxux6Y1mdxs2hlLBN83gcZ1bCUguyo4SPb3HLCSKYgVU130_assertion
;
np:hasProvenance
dgn-np:NP184911.RAxux6Y1mdxs2hlLBN83gcZ1bCUguyo4SPb3HLCSKYgVU130_provenance
;
np:hasPublicationInfo
dgn-np:NP184911.RAxux6Y1mdxs2hlLBN83gcZ1bCUguyo4SPb3HLCSKYgVU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP184911.RAxux6Y1mdxs2hlLBN83gcZ1bCUguyo4SPb3HLCSKYgVU130_assertion
a
np:Assertion
.
dgn-np:NP184911.RAxux6Y1mdxs2hlLBN83gcZ1bCUguyo4SPb3HLCSKYgVU130_provenance
a
np:Provenance
.
dgn-np:NP184911.RAxux6Y1mdxs2hlLBN83gcZ1bCUguyo4SPb3HLCSKYgVU130_publicationInfo
a
np:PublicationInfo
.
}
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{
miriam-gene:7355
a
ncit:C16612
.
lld:C0010324
a
ncit:C7057
.
dgn-gda:DGN8c359a1d18f95b99e15a00e4c1ff7f33
sio:SIO_000628
miriam-gene:7355
,
lld:C0010324
;
a
sio:SIO_001121
.
}
dgn-np:NP184911.RAxux6Y1mdxs2hlLBN83gcZ1bCUguyo4SPb3HLCSKYgVU130_provenance
{
dgn-np:NP184911.RAxux6Y1mdxs2hlLBN83gcZ1bCUguyo4SPb3HLCSKYgVU130_assertion
dcterms:description
"[As we had previously shown that CN-I was, in Tunisia, associated with homozygosity for the Q357R mutation within the UGT1 gene, we were able to detect this mutation in both families and to show that it was easily recognized by single-strand conformation polymorphism (SSCP) 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:12378576
;
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:NP184911.RAxux6Y1mdxs2hlLBN83gcZ1bCUguyo4SPb3HLCSKYgVU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:41+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" .
}