@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP896407.RAHMvncBEBlXbqYM1jpWiH86D29ly8EK-KOnb8iWkgsjI
> .
@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:NP896407.RAHMvncBEBlXbqYM1jpWiH86D29ly8EK-KOnb8iWkgsjI130_head
{
this:
np:hasAssertion
dgn-np:NP896407.RAHMvncBEBlXbqYM1jpWiH86D29ly8EK-KOnb8iWkgsjI130_assertion
;
np:hasProvenance
dgn-np:NP896407.RAHMvncBEBlXbqYM1jpWiH86D29ly8EK-KOnb8iWkgsjI130_provenance
;
np:hasPublicationInfo
dgn-np:NP896407.RAHMvncBEBlXbqYM1jpWiH86D29ly8EK-KOnb8iWkgsjI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP896407.RAHMvncBEBlXbqYM1jpWiH86D29ly8EK-KOnb8iWkgsjI130_assertion
a
np:Assertion
.
dgn-np:NP896407.RAHMvncBEBlXbqYM1jpWiH86D29ly8EK-KOnb8iWkgsjI130_provenance
a
np:Provenance
.
dgn-np:NP896407.RAHMvncBEBlXbqYM1jpWiH86D29ly8EK-KOnb8iWkgsjI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP896407.RAHMvncBEBlXbqYM1jpWiH86D29ly8EK-KOnb8iWkgsjI130_assertion
{
miriam-gene:4860
a
ncit:C16612
.
lld:C0268124
a
ncit:C7057
.
dgn-gda:DGNff17d9762ef4bdeb85fd7cfd73c83f0d
sio:SIO_000628
miriam-gene:4860
,
lld:C0268124
;
a
sio:SIO_001121
.
}
dgn-np:NP896407.RAHMvncBEBlXbqYM1jpWiH86D29ly8EK-KOnb8iWkgsjI130_provenance
{
dgn-np:NP896407.RAHMvncBEBlXbqYM1jpWiH86D29ly8EK-KOnb8iWkgsjI130_assertion
dcterms:description
"[ADA deficiency was pronounced in two siblings, and mild in the third and in the parents, and PNP activity was severely deficient in one sibling, and moderately deficient in the parents and other two siblings, who were all well.]. 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:3137899
;
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:NP896407.RAHMvncBEBlXbqYM1jpWiH86D29ly8EK-KOnb8iWkgsjI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:11+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" .
}