@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP594748.RAB0I5d8YJ9x1vHCyjlO8gks6_I-exz0qsZ8CzOHbEBk8
> .
@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:NP594748.RAB0I5d8YJ9x1vHCyjlO8gks6_I-exz0qsZ8CzOHbEBk8130_head
{
this:
np:hasAssertion
dgn-np:NP594748.RAB0I5d8YJ9x1vHCyjlO8gks6_I-exz0qsZ8CzOHbEBk8130_assertion
;
np:hasProvenance
dgn-np:NP594748.RAB0I5d8YJ9x1vHCyjlO8gks6_I-exz0qsZ8CzOHbEBk8130_provenance
;
np:hasPublicationInfo
dgn-np:NP594748.RAB0I5d8YJ9x1vHCyjlO8gks6_I-exz0qsZ8CzOHbEBk8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP594748.RAB0I5d8YJ9x1vHCyjlO8gks6_I-exz0qsZ8CzOHbEBk8130_assertion
a
np:Assertion
.
dgn-np:NP594748.RAB0I5d8YJ9x1vHCyjlO8gks6_I-exz0qsZ8CzOHbEBk8130_provenance
a
np:Provenance
.
dgn-np:NP594748.RAB0I5d8YJ9x1vHCyjlO8gks6_I-exz0qsZ8CzOHbEBk8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP594748.RAB0I5d8YJ9x1vHCyjlO8gks6_I-exz0qsZ8CzOHbEBk8130_assertion
{
miriam-gene:1545
a
ncit:C16612
.
lld:C0344559
a
ncit:C7057
.
dgn-gda:DGN5bbdcb99eaa19550b64f0efdd7ccd7d0
sio:SIO_000628
miriam-gene:1545
,
lld:C0344559
;
a
sio:SIO_001121
.
}
dgn-np:NP594748.RAB0I5d8YJ9x1vHCyjlO8gks6_I-exz0qsZ8CzOHbEBk8130_provenance
{
dgn-np:NP594748.RAB0I5d8YJ9x1vHCyjlO8gks6_I-exz0qsZ8CzOHbEBk8130_assertion
dcterms:description
"[Finally, the occurrence of PA, PCG, and unaffected individuals with identical homozygous CYP1B1 mutations in the same sibship suggests the presence of modifiers that modulate the clinical severity of the phenotypic expression of the same CYP1B1 mutation(s).]. 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:15621878
;
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:NP594748.RAB0I5d8YJ9x1vHCyjlO8gks6_I-exz0qsZ8CzOHbEBk8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:57+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" .
}