@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP541997.RAxV0VPdz5Lp5NEgt34dwLvpDMA3zqlJt0p-eGE8Q4KjM
> .
@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/v3.0.0/void/
> .
dgn-np:NP541997.RAxV0VPdz5Lp5NEgt34dwLvpDMA3zqlJt0p-eGE8Q4KjM130_head
{
this:
np:hasAssertion
dgn-np:NP541997.RAxV0VPdz5Lp5NEgt34dwLvpDMA3zqlJt0p-eGE8Q4KjM130_assertion
;
np:hasProvenance
dgn-np:NP541997.RAxV0VPdz5Lp5NEgt34dwLvpDMA3zqlJt0p-eGE8Q4KjM130_provenance
;
np:hasPublicationInfo
dgn-np:NP541997.RAxV0VPdz5Lp5NEgt34dwLvpDMA3zqlJt0p-eGE8Q4KjM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP541997.RAxV0VPdz5Lp5NEgt34dwLvpDMA3zqlJt0p-eGE8Q4KjM130_assertion
a
np:Assertion
.
dgn-np:NP541997.RAxV0VPdz5Lp5NEgt34dwLvpDMA3zqlJt0p-eGE8Q4KjM130_provenance
a
np:Provenance
.
dgn-np:NP541997.RAxV0VPdz5Lp5NEgt34dwLvpDMA3zqlJt0p-eGE8Q4KjM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP541997.RAxV0VPdz5Lp5NEgt34dwLvpDMA3zqlJt0p-eGE8Q4KjM130_assertion
{
miriam-gene:4068
a
ncit:C16612
.
lld:C1328840
a
ncit:C7057
.
dgn-gda:DGNcd2a17a1409fdb5d07959771b8aa6289
sio:SIO_000628
miriam-gene:4068
,
lld:C1328840
;
a
sio:SIO_001121
.
}
dgn-np:NP541997.RAxV0VPdz5Lp5NEgt34dwLvpDMA3zqlJt0p-eGE8Q4KjM130_provenance
{
dgn-np:NP541997.RAxV0VPdz5Lp5NEgt34dwLvpDMA3zqlJt0p-eGE8Q4KjM130_assertion
dcterms:description
"[Because quantitative defects in apoptosis were similar in mutation-positive relatives regardless of the presence of clinical ALPS, factors, other than modifiers of the Fas apoptosis pathway, leading to these distinctive immunophenotypic profiles most likely contribute to disease penetrance in ALPS.]. 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:11588044
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP541997.RAxV0VPdz5Lp5NEgt34dwLvpDMA3zqlJt0p-eGE8Q4KjM130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:43:00+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}