@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP274780.RAhxPE4GelMBGHp9fCr9aoqH6CV2KqoVCyzok59XbU0dk
> .
@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:NP274780.RAhxPE4GelMBGHp9fCr9aoqH6CV2KqoVCyzok59XbU0dk130_head
{
this:
np:hasAssertion
dgn-np:NP274780.RAhxPE4GelMBGHp9fCr9aoqH6CV2KqoVCyzok59XbU0dk130_assertion
;
np:hasProvenance
dgn-np:NP274780.RAhxPE4GelMBGHp9fCr9aoqH6CV2KqoVCyzok59XbU0dk130_provenance
;
np:hasPublicationInfo
dgn-np:NP274780.RAhxPE4GelMBGHp9fCr9aoqH6CV2KqoVCyzok59XbU0dk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP274780.RAhxPE4GelMBGHp9fCr9aoqH6CV2KqoVCyzok59XbU0dk130_assertion
a
np:Assertion
.
dgn-np:NP274780.RAhxPE4GelMBGHp9fCr9aoqH6CV2KqoVCyzok59XbU0dk130_provenance
a
np:Provenance
.
dgn-np:NP274780.RAhxPE4GelMBGHp9fCr9aoqH6CV2KqoVCyzok59XbU0dk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP274780.RAhxPE4GelMBGHp9fCr9aoqH6CV2KqoVCyzok59XbU0dk130_assertion
{
miriam-gene:695
a
ncit:C16612
.
lld:C0023530
a
ncit:C7057
.
dgn-gda:DGNffcc921f3f8d9dbc4fa3da933d5cd89b
sio:SIO_000628
miriam-gene:695
,
lld:C0023530
;
a
sio:SIO_001121
.
}
dgn-np:NP274780.RAhxPE4GelMBGHp9fCr9aoqH6CV2KqoVCyzok59XbU0dk130_provenance
{
dgn-np:NP274780.RAhxPE4GelMBGHp9fCr9aoqH6CV2KqoVCyzok59XbU0dk130_assertion
dcterms:description
"[Although neutropenia was not associated with any specific mutation in Btk, most of the alterations in this gene in the patients with XLA and neutropenia resulted in the absence of Btk protein or in amino acid substitutions in sites thought to be critical to Btk function.]. 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:8938104
;
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:NP274780.RAhxPE4GelMBGHp9fCr9aoqH6CV2KqoVCyzok59XbU0dk130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:40:16+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" .
}