@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP407179.RADA1J90KZatT9EDbgLFkxEbiHBs8JXc_knhycrMhf4Bc
> .
@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:NP407179.RADA1J90KZatT9EDbgLFkxEbiHBs8JXc_knhycrMhf4Bc130_head
{
this:
np:hasAssertion
dgn-np:NP407179.RADA1J90KZatT9EDbgLFkxEbiHBs8JXc_knhycrMhf4Bc130_assertion
;
np:hasProvenance
dgn-np:NP407179.RADA1J90KZatT9EDbgLFkxEbiHBs8JXc_knhycrMhf4Bc130_provenance
;
np:hasPublicationInfo
dgn-np:NP407179.RADA1J90KZatT9EDbgLFkxEbiHBs8JXc_knhycrMhf4Bc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP407179.RADA1J90KZatT9EDbgLFkxEbiHBs8JXc_knhycrMhf4Bc130_assertion
a
np:Assertion
.
dgn-np:NP407179.RADA1J90KZatT9EDbgLFkxEbiHBs8JXc_knhycrMhf4Bc130_provenance
a
np:Provenance
.
dgn-np:NP407179.RADA1J90KZatT9EDbgLFkxEbiHBs8JXc_knhycrMhf4Bc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP407179.RADA1J90KZatT9EDbgLFkxEbiHBs8JXc_knhycrMhf4Bc130_assertion
{
miriam-gene:3674
a
ncit:C16612
.
lld:C0019087
a
ncit:C7057
.
dgn-gda:DGN40a6691e4bdb22d96dad92c128892232
sio:SIO_000628
miriam-gene:3674
,
lld:C0019087
;
a
sio:SIO_001121
.
}
dgn-np:NP407179.RADA1J90KZatT9EDbgLFkxEbiHBs8JXc_knhycrMhf4Bc130_provenance
{
dgn-np:NP407179.RADA1J90KZatT9EDbgLFkxEbiHBs8JXc_knhycrMhf4Bc130_assertion
dcterms:description
"[The c.1544+1G>A substitution at the 5' splice donor site of intron 15 of the ITGA2B gene, called the French Gypsy mutation, causes Glanzmann thrombasthenia, an inherited hemorrhagic disorder transmitted as an autosomal recessive trait and characterized by an altered synthesis of the platelet αIIbβ3 integrin.]. 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:21487445
;
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:NP407179.RADA1J90KZatT9EDbgLFkxEbiHBs8JXc_knhycrMhf4Bc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:02+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" .
}