@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1245065.RAqPS7JijAQadY6d6VGtnwxsMWsnianaaKdqqW7kEw1m4
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP1245065.RAqPS7JijAQadY6d6VGtnwxsMWsnianaaKdqqW7kEw1m4130_head
{
this:
np:hasAssertion
dgn-np:NP1245065.RAqPS7JijAQadY6d6VGtnwxsMWsnianaaKdqqW7kEw1m4130_assertion
;
np:hasProvenance
dgn-np:NP1245065.RAqPS7JijAQadY6d6VGtnwxsMWsnianaaKdqqW7kEw1m4130_provenance
;
np:hasPublicationInfo
dgn-np:NP1245065.RAqPS7JijAQadY6d6VGtnwxsMWsnianaaKdqqW7kEw1m4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1245065.RAqPS7JijAQadY6d6VGtnwxsMWsnianaaKdqqW7kEw1m4130_assertion
a
np:Assertion
.
dgn-np:NP1245065.RAqPS7JijAQadY6d6VGtnwxsMWsnianaaKdqqW7kEw1m4130_provenance
a
np:Provenance
.
dgn-np:NP1245065.RAqPS7JijAQadY6d6VGtnwxsMWsnianaaKdqqW7kEw1m4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1245065.RAqPS7JijAQadY6d6VGtnwxsMWsnianaaKdqqW7kEw1m4130_assertion
{
miriam-gene:2189
a
ncit:C16612
.
lld:C0030312
a
ncit:C7057
.
dgn-gda:DGNa9ecd04742357244c5f648340fc8a631
sio:SIO_000628
miriam-gene:2189
,
lld:C0030312
;
a
sio:SIO_001121
.
}
dgn-np:NP1245065.RAqPS7JijAQadY6d6VGtnwxsMWsnianaaKdqqW7kEw1m4130_provenance
{
dgn-np:NP1245065.RAqPS7JijAQadY6d6VGtnwxsMWsnianaaKdqqW7kEw1m4130_assertion
dcterms:description
"[Our results showed that patients, homozygous for the FANCG founder mutation, present with severe cytopenia but progress to bone marrow failure at similar ages to other individuals affected with FA of heterogeneous genotype.]. 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:25477267
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1245065.RAqPS7JijAQadY6d6VGtnwxsMWsnianaaKdqqW7kEw1m4130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:10+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}