@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP844721.RABsxJlOTpANrD3k8U9SEdic5UYhbbY11au_xtI3rMOlc
> .
@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:NP844721.RABsxJlOTpANrD3k8U9SEdic5UYhbbY11au_xtI3rMOlc130_head
{
this:
np:hasAssertion
dgn-np:NP844721.RABsxJlOTpANrD3k8U9SEdic5UYhbbY11au_xtI3rMOlc130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP844721.RABsxJlOTpANrD3k8U9SEdic5UYhbbY11au_xtI3rMOlc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP844721.RABsxJlOTpANrD3k8U9SEdic5UYhbbY11au_xtI3rMOlc130_assertion
a
np:Assertion
.
dgn-np:NP844721.RABsxJlOTpANrD3k8U9SEdic5UYhbbY11au_xtI3rMOlc130_provenance
a
np:Provenance
.
dgn-np:NP844721.RABsxJlOTpANrD3k8U9SEdic5UYhbbY11au_xtI3rMOlc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP844721.RABsxJlOTpANrD3k8U9SEdic5UYhbbY11au_xtI3rMOlc130_assertion
{
miriam-gene:760
a
ncit:C16612
.
lld:C0001126
a
ncit:C7057
.
dgn-gda:DGN53b4dfdb3515225b096d8c96e833236d
sio:SIO_000628
miriam-gene:760
,
lld:C0001126
;
a
sio:SIO_001121
.
}
dgn-np:NP844721.RABsxJlOTpANrD3k8U9SEdic5UYhbbY11au_xtI3rMOlc130_provenance
{
dgn-np:NP844721.RABsxJlOTpANrD3k8U9SEdic5UYhbbY11au_xtI3rMOlc130_assertion
dcterms:description
"[We present here, the clinical and radiographic details along with, results of mutational analysis of the CA2 gene in an individual clinically diagnosed with renal tubular acidosis, osteopetrosis and mental retardation and his family members to establish genotype-phenotype correlation.]. 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:20935402
;
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:NP844721.RABsxJlOTpANrD3k8U9SEdic5UYhbbY11au_xtI3rMOlc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:07+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" .
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"v4.0.0" .
}