@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP776665.RAtU6plO3mDGHCels_Vf44xiCLkSrxgldZC0YAoW-lr8w
> .
@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:NP776665.RAtU6plO3mDGHCels_Vf44xiCLkSrxgldZC0YAoW-lr8w130_head
{
this:
np:hasAssertion
dgn-np:NP776665.RAtU6plO3mDGHCels_Vf44xiCLkSrxgldZC0YAoW-lr8w130_assertion
;
np:hasProvenance
dgn-np:NP776665.RAtU6plO3mDGHCels_Vf44xiCLkSrxgldZC0YAoW-lr8w130_provenance
;
np:hasPublicationInfo
dgn-np:NP776665.RAtU6plO3mDGHCels_Vf44xiCLkSrxgldZC0YAoW-lr8w130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP776665.RAtU6plO3mDGHCels_Vf44xiCLkSrxgldZC0YAoW-lr8w130_assertion
a
np:Assertion
.
dgn-np:NP776665.RAtU6plO3mDGHCels_Vf44xiCLkSrxgldZC0YAoW-lr8w130_provenance
a
np:Provenance
.
dgn-np:NP776665.RAtU6plO3mDGHCels_Vf44xiCLkSrxgldZC0YAoW-lr8w130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP776665.RAtU6plO3mDGHCels_Vf44xiCLkSrxgldZC0YAoW-lr8w130_assertion
{
miriam-gene:7454
a
ncit:C16612
.
lld:C0272278
a
ncit:C7057
.
dgn-gda:DGN3dde28580bd75d955fa8158a42fd3978
sio:SIO_000628
miriam-gene:7454
,
lld:C0272278
;
a
sio:SIO_001122
.
}
dgn-np:NP776665.RAtU6plO3mDGHCels_Vf44xiCLkSrxgldZC0YAoW-lr8w130_provenance
{
dgn-np:NP776665.RAtU6plO3mDGHCels_Vf44xiCLkSrxgldZC0YAoW-lr8w130_assertion
dcterms:description
"[Four amino acid substitutions, Leu27Phe, Thr48Ile, Val75Met and Arg477Lys, were found in patients with congenital thrombocytopenia and no clinically evident immune defect indicating that the WASP gene is the site for mutations in X-linked thrombocytopenia as well as in WAS.]. 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:8528199
;
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:NP776665.RAtU6plO3mDGHCels_Vf44xiCLkSrxgldZC0YAoW-lr8w130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:45:29+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" .
}