@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP279487.RAIz9zxlidMVMTJEv8azWB-jq2SooXutdcHKI0puY_9LM
> .
@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:NP279487.RAIz9zxlidMVMTJEv8azWB-jq2SooXutdcHKI0puY_9LM130_head
{
this:
np:hasAssertion
dgn-np:NP279487.RAIz9zxlidMVMTJEv8azWB-jq2SooXutdcHKI0puY_9LM130_assertion
;
np:hasProvenance
dgn-np:NP279487.RAIz9zxlidMVMTJEv8azWB-jq2SooXutdcHKI0puY_9LM130_provenance
;
np:hasPublicationInfo
dgn-np:NP279487.RAIz9zxlidMVMTJEv8azWB-jq2SooXutdcHKI0puY_9LM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP279487.RAIz9zxlidMVMTJEv8azWB-jq2SooXutdcHKI0puY_9LM130_assertion
a
np:Assertion
.
dgn-np:NP279487.RAIz9zxlidMVMTJEv8azWB-jq2SooXutdcHKI0puY_9LM130_provenance
a
np:Provenance
.
dgn-np:NP279487.RAIz9zxlidMVMTJEv8azWB-jq2SooXutdcHKI0puY_9LM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP279487.RAIz9zxlidMVMTJEv8azWB-jq2SooXutdcHKI0puY_9LM130_assertion
{
miriam-gene:158326
a
ncit:C16612
.
lld:C0265233
a
ncit:C7057
.
dgn-gda:DGNcfc80b9f0a8b29978f3047a934755ca0
sio:SIO_000628
miriam-gene:158326
,
lld:C0265233
;
a
sio:SIO_001121
.
}
dgn-np:NP279487.RAIz9zxlidMVMTJEv8azWB-jq2SooXutdcHKI0puY_9LM130_provenance
{
dgn-np:NP279487.RAIz9zxlidMVMTJEv8azWB-jq2SooXutdcHKI0puY_9LM130_assertion
dcterms:description
"[The milder phenotypes associated with FREM1 deficiency in humans (MOTA syndrome and BNAR syndrome) compared to that resulting from FRAS1 and FREM2 loss of function (Fraser syndrome) are also consistent with the less severe phenotypes resulting from Frem1 loss of function in mice.]. 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:21507892
;
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:NP279487.RAIz9zxlidMVMTJEv8azWB-jq2SooXutdcHKI0puY_9LM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:37+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" .
}