@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP195461.RAV6SwxVTcleqguq0njJy9gD6qn1u95YUbvbRGJ5f2Ejk
> .
@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:NP195461.RAV6SwxVTcleqguq0njJy9gD6qn1u95YUbvbRGJ5f2Ejk130_head
{
this:
np:hasAssertion
dgn-np:NP195461.RAV6SwxVTcleqguq0njJy9gD6qn1u95YUbvbRGJ5f2Ejk130_assertion
;
np:hasProvenance
dgn-np:NP195461.RAV6SwxVTcleqguq0njJy9gD6qn1u95YUbvbRGJ5f2Ejk130_provenance
;
np:hasPublicationInfo
dgn-np:NP195461.RAV6SwxVTcleqguq0njJy9gD6qn1u95YUbvbRGJ5f2Ejk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP195461.RAV6SwxVTcleqguq0njJy9gD6qn1u95YUbvbRGJ5f2Ejk130_assertion
a
np:Assertion
.
dgn-np:NP195461.RAV6SwxVTcleqguq0njJy9gD6qn1u95YUbvbRGJ5f2Ejk130_provenance
a
np:Provenance
.
dgn-np:NP195461.RAV6SwxVTcleqguq0njJy9gD6qn1u95YUbvbRGJ5f2Ejk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP195461.RAV6SwxVTcleqguq0njJy9gD6qn1u95YUbvbRGJ5f2Ejk130_assertion
{
miriam-gene:958
a
ncit:C16612
.
lld:C1720957
a
ncit:C7057
.
dgn-gda:DGN8b238e268255c04b2e5f4e35ff2019d9
sio:SIO_000628
miriam-gene:958
,
lld:C1720957
;
a
sio:SIO_001121
.
}
dgn-np:NP195461.RAV6SwxVTcleqguq0njJy9gD6qn1u95YUbvbRGJ5f2Ejk130_provenance
{
dgn-np:NP195461.RAV6SwxVTcleqguq0njJy9gD6qn1u95YUbvbRGJ5f2Ejk130_assertion
dcterms:description
"[This observation emphasizes the requirement of CD40 mutation analysis for definite diagnosis of HIGM3 despite normal flow cytometric expression of CD40, particularly if the immunological and clinical profile is suggestive for HIGM3.]. 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:22443339
;
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:NP195461.RAV6SwxVTcleqguq0njJy9gD6qn1u95YUbvbRGJ5f2Ejk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:47+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" .
}