@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP770052.RAp9dhWifeOLh3FcY0Y2RP02V6IhU96l7agAcXSKYAXYA
> .
@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/v4.0.0/void/
> .
dgn-np:NP770052.RAp9dhWifeOLh3FcY0Y2RP02V6IhU96l7agAcXSKYAXYA130_head
{
this:
np:hasAssertion
dgn-np:NP770052.RAp9dhWifeOLh3FcY0Y2RP02V6IhU96l7agAcXSKYAXYA130_assertion
;
np:hasProvenance
dgn-np:NP770052.RAp9dhWifeOLh3FcY0Y2RP02V6IhU96l7agAcXSKYAXYA130_provenance
;
np:hasPublicationInfo
dgn-np:NP770052.RAp9dhWifeOLh3FcY0Y2RP02V6IhU96l7agAcXSKYAXYA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP770052.RAp9dhWifeOLh3FcY0Y2RP02V6IhU96l7agAcXSKYAXYA130_assertion
a
np:Assertion
.
dgn-np:NP770052.RAp9dhWifeOLh3FcY0Y2RP02V6IhU96l7agAcXSKYAXYA130_provenance
a
np:Provenance
.
dgn-np:NP770052.RAp9dhWifeOLh3FcY0Y2RP02V6IhU96l7agAcXSKYAXYA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP770052.RAp9dhWifeOLh3FcY0Y2RP02V6IhU96l7agAcXSKYAXYA130_assertion
{
miriam-gene:415
a
ncit:C16612
.
lld:C0008445
a
ncit:C7057
.
dgn-gda:DGNe9e17218b18e68ed0473c92fbc711e4d
sio:SIO_000628
miriam-gene:415
,
lld:C0008445
;
a
sio:SIO_001121
.
}
dgn-np:NP770052.RAp9dhWifeOLh3FcY0Y2RP02V6IhU96l7agAcXSKYAXYA130_provenance
{
dgn-np:NP770052.RAp9dhWifeOLh3FcY0Y2RP02V6IhU96l7agAcXSKYAXYA130_assertion
dcterms:description
"[First, the absence of stippled epiphyses on radiograms should not be considered an exclusion criteria for ARSE mutation screening in patients with other features of the disease, especially after the neonatal period.]. 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:19839041
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP770052.RAp9dhWifeOLh3FcY0Y2RP02V6IhU96l7agAcXSKYAXYA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:34+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}