@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP304589.RAErc1UfXbQAreTWLjemATt_hRiv0Ar-ebX2CAKd3xEzc
> .
@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:NP304589.RAErc1UfXbQAreTWLjemATt_hRiv0Ar-ebX2CAKd3xEzc130_head
{
this:
np:hasAssertion
dgn-np:NP304589.RAErc1UfXbQAreTWLjemATt_hRiv0Ar-ebX2CAKd3xEzc130_assertion
;
np:hasProvenance
dgn-np:NP304589.RAErc1UfXbQAreTWLjemATt_hRiv0Ar-ebX2CAKd3xEzc130_provenance
;
np:hasPublicationInfo
dgn-np:NP304589.RAErc1UfXbQAreTWLjemATt_hRiv0Ar-ebX2CAKd3xEzc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP304589.RAErc1UfXbQAreTWLjemATt_hRiv0Ar-ebX2CAKd3xEzc130_assertion
a
np:Assertion
.
dgn-np:NP304589.RAErc1UfXbQAreTWLjemATt_hRiv0Ar-ebX2CAKd3xEzc130_provenance
a
np:Provenance
.
dgn-np:NP304589.RAErc1UfXbQAreTWLjemATt_hRiv0Ar-ebX2CAKd3xEzc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP304589.RAErc1UfXbQAreTWLjemATt_hRiv0Ar-ebX2CAKd3xEzc130_assertion
{
miriam-gene:2335
a
ncit:C16612
.
lld:C0085110
a
ncit:C7057
.
dgn-gda:DGNd1956363078be30469d1b9ea19df2618
sio:SIO_000628
miriam-gene:2335
,
lld:C0085110
;
a
sio:SIO_001121
.
}
dgn-np:NP304589.RAErc1UfXbQAreTWLjemATt_hRiv0Ar-ebX2CAKd3xEzc130_provenance
{
dgn-np:NP304589.RAErc1UfXbQAreTWLjemATt_hRiv0Ar-ebX2CAKd3xEzc130_assertion
dcterms:description
"[We report here that a homozygous 6-bp deletion in the gene encoding CD45 (PTPRC, gene map locus 1q31-32), which results in a loss of glutamic acid 339 and tyrosine 340 in the first fibronectin type III module of the extracellular domain of CD45, is associated with failure of surface expression of CD45 and SCID.]. 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:11145714
;
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:NP304589.RAErc1UfXbQAreTWLjemATt_hRiv0Ar-ebX2CAKd3xEzc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:03+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" .
}