@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1234573.RAsXw-Gcbbfs0IJhx7gg30rg0S7KAgck7iRoNXfzKVPb8
> .
@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:NP1234573.RAsXw-Gcbbfs0IJhx7gg30rg0S7KAgck7iRoNXfzKVPb8130_head
{
this:
np:hasAssertion
dgn-np:NP1234573.RAsXw-Gcbbfs0IJhx7gg30rg0S7KAgck7iRoNXfzKVPb8130_assertion
;
np:hasProvenance
dgn-np:NP1234573.RAsXw-Gcbbfs0IJhx7gg30rg0S7KAgck7iRoNXfzKVPb8130_provenance
;
np:hasPublicationInfo
dgn-np:NP1234573.RAsXw-Gcbbfs0IJhx7gg30rg0S7KAgck7iRoNXfzKVPb8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1234573.RAsXw-Gcbbfs0IJhx7gg30rg0S7KAgck7iRoNXfzKVPb8130_assertion
a
np:Assertion
.
dgn-np:NP1234573.RAsXw-Gcbbfs0IJhx7gg30rg0S7KAgck7iRoNXfzKVPb8130_provenance
a
np:Provenance
.
dgn-np:NP1234573.RAsXw-Gcbbfs0IJhx7gg30rg0S7KAgck7iRoNXfzKVPb8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1234573.RAsXw-Gcbbfs0IJhx7gg30rg0S7KAgck7iRoNXfzKVPb8130_assertion
{
miriam-gene:149461
a
ncit:C16612
.
lld:C0022658
a
ncit:C7057
.
dgn-gda:DGN36d24beec0c3b50e60b6436f3dcc59e7
sio:SIO_000628
miriam-gene:149461
,
lld:C0022658
;
a
sio:SIO_001122
.
}
dgn-np:NP1234573.RAsXw-Gcbbfs0IJhx7gg30rg0S7KAgck7iRoNXfzKVPb8130_provenance
{
dgn-np:NP1234573.RAsXw-Gcbbfs0IJhx7gg30rg0S7KAgck7iRoNXfzKVPb8130_assertion
dcterms:description
"[We present the first case report of a Mexican family with three affected sisters carrying a p.Gly20Asp mutation in CLDN19 whose heterozygous mother showed evident hypercalciuria and normal low magnesemia without any other clinical, laboratory, and radiological symptoms of renal disease making of her an unsuitable donor.]. 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:25366522
;
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:NP1234573.RAsXw-Gcbbfs0IJhx7gg30rg0S7KAgck7iRoNXfzKVPb8130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:05+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" .
}