@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y
> .
@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:NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y130_head
{
this:
np:hasAssertion
dgn-np:NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y130_assertion
;
np:hasProvenance
dgn-np:NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y130_provenance
;
np:hasPublicationInfo
dgn-np:NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y130_assertion
a
np:Assertion
.
dgn-np:NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y130_provenance
a
np:Provenance
.
dgn-np:NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y130_assertion
{
miriam-gene:617
a
ncit:C16612
.
lld:C0001125
a
ncit:C7057
.
dgn-gda:DGN4adbcc983214921ef708e8f055487bb3
sio:SIO_000628
miriam-gene:617
,
lld:C0001125
;
a
sio:SIO_001121
.
}
dgn-np:NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y130_provenance
{
dgn-np:NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y130_assertion
dcterms:description
"[This report emphasizes the clinical heterogeneity associated with the mutation in BCS1L gene, even within the same family and we recommend that defects in this gene should be considered in the differential diagnosis of lactic acidosis with variable involvement of different organs.]. 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:22991165
;
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:NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:25+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" .
}