@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP854129.RAIyfDhHKgzCVk7LnzEdn3a4M1fLsrv_buwhK3UTjatnA
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP854129.RAIyfDhHKgzCVk7LnzEdn3a4M1fLsrv_buwhK3UTjatnA130_head
{
this:
np:hasAssertion
dgn-np:NP854129.RAIyfDhHKgzCVk7LnzEdn3a4M1fLsrv_buwhK3UTjatnA130_assertion
;
np:hasProvenance
dgn-np:NP854129.RAIyfDhHKgzCVk7LnzEdn3a4M1fLsrv_buwhK3UTjatnA130_provenance
;
np:hasPublicationInfo
dgn-np:NP854129.RAIyfDhHKgzCVk7LnzEdn3a4M1fLsrv_buwhK3UTjatnA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP854129.RAIyfDhHKgzCVk7LnzEdn3a4M1fLsrv_buwhK3UTjatnA130_assertion
a
np:Assertion
.
dgn-np:NP854129.RAIyfDhHKgzCVk7LnzEdn3a4M1fLsrv_buwhK3UTjatnA130_provenance
a
np:Provenance
.
dgn-np:NP854129.RAIyfDhHKgzCVk7LnzEdn3a4M1fLsrv_buwhK3UTjatnA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP854129.RAIyfDhHKgzCVk7LnzEdn3a4M1fLsrv_buwhK3UTjatnA130_assertion
{
miriam-gene:5034
a
ncit:C16612
.
lld:C0000744
a
ncit:C7057
.
dgn-gda:DGN1f21f01eedb7163661ae75231249e9cc
sio:SIO_000628
miriam-gene:5034
,
lld:C0000744
;
a
sio:SIO_001121
.
}
dgn-np:NP854129.RAIyfDhHKgzCVk7LnzEdn3a4M1fLsrv_buwhK3UTjatnA130_provenance
{
dgn-np:NP854129.RAIyfDhHKgzCVk7LnzEdn3a4M1fLsrv_buwhK3UTjatnA130_assertion
dcterms:description
"[These two mutations lead to abnormal truncated MTTP proteins, incapable of binding PDI and responsible for the loss of function of MTTP, thereby explaining the severe abetalipoproteinemia phenotype of these children.]. 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:21394827
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP854129.RAIyfDhHKgzCVk7LnzEdn3a4M1fLsrv_buwhK3UTjatnA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:42+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}