@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP701739.RAa3vwyxIu96P-xFNONFd3d4W8LG7mDCHaHaRFuNX-V3w
> .
@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:NP701739.RAa3vwyxIu96P-xFNONFd3d4W8LG7mDCHaHaRFuNX-V3w130_head
{
this:
np:hasAssertion
dgn-np:NP701739.RAa3vwyxIu96P-xFNONFd3d4W8LG7mDCHaHaRFuNX-V3w130_assertion
;
np:hasProvenance
dgn-np:NP701739.RAa3vwyxIu96P-xFNONFd3d4W8LG7mDCHaHaRFuNX-V3w130_provenance
;
np:hasPublicationInfo
dgn-np:NP701739.RAa3vwyxIu96P-xFNONFd3d4W8LG7mDCHaHaRFuNX-V3w130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP701739.RAa3vwyxIu96P-xFNONFd3d4W8LG7mDCHaHaRFuNX-V3w130_assertion
a
np:Assertion
.
dgn-np:NP701739.RAa3vwyxIu96P-xFNONFd3d4W8LG7mDCHaHaRFuNX-V3w130_provenance
a
np:Provenance
.
dgn-np:NP701739.RAa3vwyxIu96P-xFNONFd3d4W8LG7mDCHaHaRFuNX-V3w130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP701739.RAa3vwyxIu96P-xFNONFd3d4W8LG7mDCHaHaRFuNX-V3w130_assertion
{
miriam-gene:189
a
ncit:C16612
.
lld:C0268164
a
ncit:C7057
.
dgn-gda:DGNa903266d5483b64938adb8e641accbae
sio:SIO_000628
miriam-gene:189
,
lld:C0268164
;
a
sio:SIO_001122
.
}
dgn-np:NP701739.RAa3vwyxIu96P-xFNONFd3d4W8LG7mDCHaHaRFuNX-V3w130_provenance
{
dgn-np:NP701739.RAa3vwyxIu96P-xFNONFd3d4W8LG7mDCHaHaRFuNX-V3w130_assertion
dcterms:description
"[We report the clinical and genetic study of a primary hyperoxaluria type I (PH1) family with two sisters homozygous for p.Gly170Arg who are still asymptomatic at age 29 and 35, and two brothers, also homozygous for the same mutation, who are affected since age 27 and 30.]. 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:18985333
;
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:NP701739.RAa3vwyxIu96P-xFNONFd3d4W8LG7mDCHaHaRFuNX-V3w130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:03+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" .
}