@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP359100.RAnsAK3z5vBuYq-qR3py0vy-Ik-TBX4qB4c7plADeufWc
> .
@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:NP359100.RAnsAK3z5vBuYq-qR3py0vy-Ik-TBX4qB4c7plADeufWc130_head
{
this:
np:hasAssertion
dgn-np:NP359100.RAnsAK3z5vBuYq-qR3py0vy-Ik-TBX4qB4c7plADeufWc130_assertion
;
np:hasProvenance
dgn-np:NP359100.RAnsAK3z5vBuYq-qR3py0vy-Ik-TBX4qB4c7plADeufWc130_provenance
;
np:hasPublicationInfo
dgn-np:NP359100.RAnsAK3z5vBuYq-qR3py0vy-Ik-TBX4qB4c7plADeufWc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP359100.RAnsAK3z5vBuYq-qR3py0vy-Ik-TBX4qB4c7plADeufWc130_assertion
a
np:Assertion
.
dgn-np:NP359100.RAnsAK3z5vBuYq-qR3py0vy-Ik-TBX4qB4c7plADeufWc130_provenance
a
np:Provenance
.
dgn-np:NP359100.RAnsAK3z5vBuYq-qR3py0vy-Ik-TBX4qB4c7plADeufWc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP359100.RAnsAK3z5vBuYq-qR3py0vy-Ik-TBX4qB4c7plADeufWc130_assertion
{
miriam-gene:6521
a
ncit:C16612
.
lld:C1704380
a
ncit:C7057
.
dgn-gda:DGN21013437785659d814c67ec5a10676ee
sio:SIO_000628
miriam-gene:6521
,
lld:C1704380
;
a
sio:SIO_001121
.
}
dgn-np:NP359100.RAnsAK3z5vBuYq-qR3py0vy-Ik-TBX4qB4c7plADeufWc130_provenance
{
dgn-np:NP359100.RAnsAK3z5vBuYq-qR3py0vy-Ik-TBX4qB4c7plADeufWc130_assertion
dcterms:description
"[However, recent studies of Thai dRTA families have shown that mutations in this gene result in autosomal recessive (AR) dRTA, giving rise to the postulation that AE1 gene mutations causing AR dRTA might be found commonly in Thai pediatric patients with dRTA.]. 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:12087557
;
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:NP359100.RAnsAK3z5vBuYq-qR3py0vy-Ik-TBX4qB4c7plADeufWc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:28+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" .
}