@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28
> .
@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 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:NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_head
{
this:
np:hasAssertion
dgn-np:NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_assertion
;
np:hasProvenance
dgn-np:NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_provenance
;
np:hasPublicationInfo
dgn-np:NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_assertion
a
np:Assertion
.
dgn-np:NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_provenance
a
np:Provenance
.
dgn-np:NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_assertion
{
miriam-gene:411
a
ncit:C16612
.
lld:C0026709
a
ncit:C7057
.
dgn-gda:DGN6443924da547a96c9927d28a82f95c31
sio:SIO_000628
miriam-gene:411
,
lld:C0026709
;
a
sio:SIO_001122
.
}
dgn-np:NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_provenance
{
dgn-np:NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_assertion
dcterms:description
"[The two common polymorphisms c.1072G>A [p.V358M] and c.1126G>A [p.V376M] were identified among the patients, along with the silent mutation c.1191A>G. Cultured fibroblast ARSB mutant protein and residual activity were determined for each patient, and, together with genotype information, were used to predict the expected clinical severity of each MPS VI patient.]. 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:14974081
;
prov:wasDerivedFrom
dgn-void:uniprot-20150221
;
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-20150221
pav:importedOn
"2015-02-21"^^
xsd:date
.
}
dgn-np:NP1717.RA-dbryp7qAfmBlh1fsKCcovL5hNbow_p9KpIaUo0RB28130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:37:42+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
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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}