@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP231192.RARdRwfmLd6wFoU_KNihmj8NxXruckiAxjbTAnIpeiVyY
> .
@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:NP231192.RARdRwfmLd6wFoU_KNihmj8NxXruckiAxjbTAnIpeiVyY130_head
{
this:
np:hasAssertion
dgn-np:NP231192.RARdRwfmLd6wFoU_KNihmj8NxXruckiAxjbTAnIpeiVyY130_assertion
;
np:hasProvenance
dgn-np:NP231192.RARdRwfmLd6wFoU_KNihmj8NxXruckiAxjbTAnIpeiVyY130_provenance
;
np:hasPublicationInfo
dgn-np:NP231192.RARdRwfmLd6wFoU_KNihmj8NxXruckiAxjbTAnIpeiVyY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP231192.RARdRwfmLd6wFoU_KNihmj8NxXruckiAxjbTAnIpeiVyY130_assertion
a
np:Assertion
.
dgn-np:NP231192.RARdRwfmLd6wFoU_KNihmj8NxXruckiAxjbTAnIpeiVyY130_provenance
a
np:Provenance
.
dgn-np:NP231192.RARdRwfmLd6wFoU_KNihmj8NxXruckiAxjbTAnIpeiVyY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP231192.RARdRwfmLd6wFoU_KNihmj8NxXruckiAxjbTAnIpeiVyY130_assertion
{
miriam-gene:57167
a
ncit:C16612
.
lld:C1623209
a
ncit:C7057
.
dgn-gda:DGN054cc87ff5c920123ecbddc508e2d798
sio:SIO_000628
miriam-gene:57167
,
lld:C1623209
;
a
sio:SIO_001121
.
}
dgn-np:NP231192.RARdRwfmLd6wFoU_KNihmj8NxXruckiAxjbTAnIpeiVyY130_provenance
{
dgn-np:NP231192.RARdRwfmLd6wFoU_KNihmj8NxXruckiAxjbTAnIpeiVyY130_assertion
dcterms:description
"[This finding illustrates that the phenotypic and functional effects of SALL4 missense mutations are difficult to predict, and that other SALL4 missense mutations might lead to phenotypes not overlapping with Okihiro syndrome.]. 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:16402211
;
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:NP231192.RARdRwfmLd6wFoU_KNihmj8NxXruckiAxjbTAnIpeiVyY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:09+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" .
}