@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP799309.RAomFO0DXkeyyPg5RtRnhlSDC94QS7ZU4Hpyz1y5Oi5KM
> .
@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:NP799309.RAomFO0DXkeyyPg5RtRnhlSDC94QS7ZU4Hpyz1y5Oi5KM130_head
{
this:
np:hasAssertion
dgn-np:NP799309.RAomFO0DXkeyyPg5RtRnhlSDC94QS7ZU4Hpyz1y5Oi5KM130_assertion
;
np:hasProvenance
dgn-np:NP799309.RAomFO0DXkeyyPg5RtRnhlSDC94QS7ZU4Hpyz1y5Oi5KM130_provenance
;
np:hasPublicationInfo
dgn-np:NP799309.RAomFO0DXkeyyPg5RtRnhlSDC94QS7ZU4Hpyz1y5Oi5KM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP799309.RAomFO0DXkeyyPg5RtRnhlSDC94QS7ZU4Hpyz1y5Oi5KM130_assertion
a
np:Assertion
.
dgn-np:NP799309.RAomFO0DXkeyyPg5RtRnhlSDC94QS7ZU4Hpyz1y5Oi5KM130_provenance
a
np:Provenance
.
dgn-np:NP799309.RAomFO0DXkeyyPg5RtRnhlSDC94QS7ZU4Hpyz1y5Oi5KM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP799309.RAomFO0DXkeyyPg5RtRnhlSDC94QS7ZU4Hpyz1y5Oi5KM130_assertion
{
miriam-gene:2395
a
ncit:C16612
.
lld:C0751434
a
ncit:C7057
.
dgn-gda:DGN8495c1ef25f653b8b9b93474ccddebd3
sio:SIO_000628
miriam-gene:2395
,
lld:C0751434
;
a
sio:SIO_001121
.
}
dgn-np:NP799309.RAomFO0DXkeyyPg5RtRnhlSDC94QS7ZU4Hpyz1y5Oi5KM130_provenance
{
dgn-np:NP799309.RAomFO0DXkeyyPg5RtRnhlSDC94QS7ZU4Hpyz1y5Oi5KM130_assertion
dcterms:description
"[As already described for cystic fibrosis and Friedreich ataxia, the incidence of PKU in Italy has been estimated by determining the increase of consanguineous marriages among 178 couples of PKU parents over the frequencies carefully established for the same marriages in the general Italian population for each of the 95 provinces during a 55-year period.]. 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:6652943
;
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:NP799309.RAomFO0DXkeyyPg5RtRnhlSDC94QS7ZU4Hpyz1y5Oi5KM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:10+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" .
}