@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP800957.RAZj2jHDGWZaSvsypyqnfz7tB2Fn2R8xj06u9WU64fY70
> .
@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:NP800957.RAZj2jHDGWZaSvsypyqnfz7tB2Fn2R8xj06u9WU64fY70130_head
{
this:
np:hasAssertion
dgn-np:NP800957.RAZj2jHDGWZaSvsypyqnfz7tB2Fn2R8xj06u9WU64fY70130_assertion
;
np:hasProvenance
dgn-np:NP800957.RAZj2jHDGWZaSvsypyqnfz7tB2Fn2R8xj06u9WU64fY70130_provenance
;
np:hasPublicationInfo
dgn-np:NP800957.RAZj2jHDGWZaSvsypyqnfz7tB2Fn2R8xj06u9WU64fY70130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP800957.RAZj2jHDGWZaSvsypyqnfz7tB2Fn2R8xj06u9WU64fY70130_assertion
a
np:Assertion
.
dgn-np:NP800957.RAZj2jHDGWZaSvsypyqnfz7tB2Fn2R8xj06u9WU64fY70130_provenance
a
np:Provenance
.
dgn-np:NP800957.RAZj2jHDGWZaSvsypyqnfz7tB2Fn2R8xj06u9WU64fY70130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP800957.RAZj2jHDGWZaSvsypyqnfz7tB2Fn2R8xj06u9WU64fY70130_assertion
{
miriam-gene:8398
a
ncit:C16612
.
lld:C0431663
a
ncit:C7057
.
dgn-gda:DGN6715be2fef304886d7a4bdd92d992359
sio:SIO_000628
miriam-gene:8398
,
lld:C0431663
;
a
sio:SIO_001121
.
}
dgn-np:NP800957.RAZj2jHDGWZaSvsypyqnfz7tB2Fn2R8xj06u9WU64fY70130_provenance
{
dgn-np:NP800957.RAZj2jHDGWZaSvsypyqnfz7tB2Fn2R8xj06u9WU64fY70130_assertion
dcterms:description
"[One of the five families we studied did not link to PLA2G6 locus, and in the family one of the two affected siblings additionally had atypical features including facial dysmorphism, pectus carinatum, scoliosis, pes varus, zygodactyly and bilateral cryptorchidism as well as cerebellar atrophy, as previously reported.]. 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:23749988
;
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:NP800957.RAZj2jHDGWZaSvsypyqnfz7tB2Fn2R8xj06u9WU64fY70130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:11+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" .
}