@prefix orcid: <
http://orcid.org/
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP526.RAnT4ZChw3p5uWRgD9I5X8MomBntoLzJhUSdn1ZluQYFc
> .
@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 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:NP526.RAnT4ZChw3p5uWRgD9I5X8MomBntoLzJhUSdn1ZluQYFc130_head
{
this:
np:hasAssertion
dgn-np:NP526.RAnT4ZChw3p5uWRgD9I5X8MomBntoLzJhUSdn1ZluQYFc130_assertion
;
np:hasProvenance
dgn-np:NP526.RAnT4ZChw3p5uWRgD9I5X8MomBntoLzJhUSdn1ZluQYFc130_provenance
;
np:hasPublicationInfo
dgn-np:NP526.RAnT4ZChw3p5uWRgD9I5X8MomBntoLzJhUSdn1ZluQYFc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP526.RAnT4ZChw3p5uWRgD9I5X8MomBntoLzJhUSdn1ZluQYFc130_assertion
a
np:Assertion
.
dgn-np:NP526.RAnT4ZChw3p5uWRgD9I5X8MomBntoLzJhUSdn1ZluQYFc130_provenance
a
np:Provenance
.
dgn-np:NP526.RAnT4ZChw3p5uWRgD9I5X8MomBntoLzJhUSdn1ZluQYFc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP526.RAnT4ZChw3p5uWRgD9I5X8MomBntoLzJhUSdn1ZluQYFc130_assertion
{
miriam-gene:435
a
ncit:C16612
.
lld:C0268547
a
ncit:C7057
.
dgn-gda:DGN682ed3be734c3ca0a9d00e7b1bbadff3
sio:SIO_000628
miriam-gene:435
,
lld:C0268547
;
a
sio:SIO_001122
.
}
dgn-np:NP526.RAnT4ZChw3p5uWRgD9I5X8MomBntoLzJhUSdn1ZluQYFc130_provenance
{
dgn-np:NP526.RAnT4ZChw3p5uWRgD9I5X8MomBntoLzJhUSdn1ZluQYFc130_assertion
dcterms:description
"[We conclude (i) that the identification of the R95C mutation in strain 944 demonstrates that virtually all ASAL deficiency results from defects in the ASAL structural gene and (ii) that minor alternative splicing of the coding region occurs at the ASAL locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:2263616
;
prov:wasDerivedFrom
dgn-void:uniprot-20130724
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20130724
pav:importedOn
"2013-07-24"^^
xsd:date
.
}
dgn-np:NP526.RAnT4ZChw3p5uWRgD9I5X8MomBntoLzJhUSdn1ZluQYFc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:31:58+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
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}