@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP627516.RAEtZTR1LsUCAksGdcnq-O38iBLFW9LXje7vaW_9q3XWg
> .
@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:NP627516.RAEtZTR1LsUCAksGdcnq-O38iBLFW9LXje7vaW_9q3XWg130_head
{
this:
np:hasAssertion
dgn-np:NP627516.RAEtZTR1LsUCAksGdcnq-O38iBLFW9LXje7vaW_9q3XWg130_assertion
;
np:hasProvenance
dgn-np:NP627516.RAEtZTR1LsUCAksGdcnq-O38iBLFW9LXje7vaW_9q3XWg130_provenance
;
np:hasPublicationInfo
dgn-np:NP627516.RAEtZTR1LsUCAksGdcnq-O38iBLFW9LXje7vaW_9q3XWg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP627516.RAEtZTR1LsUCAksGdcnq-O38iBLFW9LXje7vaW_9q3XWg130_assertion
a
np:Assertion
.
dgn-np:NP627516.RAEtZTR1LsUCAksGdcnq-O38iBLFW9LXje7vaW_9q3XWg130_provenance
a
np:Provenance
.
dgn-np:NP627516.RAEtZTR1LsUCAksGdcnq-O38iBLFW9LXje7vaW_9q3XWg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP627516.RAEtZTR1LsUCAksGdcnq-O38iBLFW9LXje7vaW_9q3XWg130_assertion
{
miriam-gene:474384
a
ncit:C16612
.
lld:C0272322
a
ncit:C7057
.
dgn-gda:DGNd52cca55438e05c99fc6877c9dd7e589
sio:SIO_000628
miriam-gene:474384
,
lld:C0272322
;
a
sio:SIO_001121
.
}
dgn-np:NP627516.RAEtZTR1LsUCAksGdcnq-O38iBLFW9LXje7vaW_9q3XWg130_provenance
{
dgn-np:NP627516.RAEtZTR1LsUCAksGdcnq-O38iBLFW9LXje7vaW_9q3XWg130_assertion
dcterms:description
"[Factor VIII (FVIII) gene rearrangements between the intron 22 F8A sequence in the FVIII gene and either of the two homologous F8A sequences 500 kilobases telomeric to the FVIII gene have recently been found to be responsible for the severe hemophilia A phenotype.]. 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:7897307
;
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:NP627516.RAEtZTR1LsUCAksGdcnq-O38iBLFW9LXje7vaW_9q3XWg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:18+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" .
}