@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP685296.RAOSokOg1sqGMzJznME_PcbSmD0Uu3ub_zCO7pm2UglLg
> .
@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:NP685296.RAOSokOg1sqGMzJznME_PcbSmD0Uu3ub_zCO7pm2UglLg130_head
{
this:
np:hasAssertion
dgn-np:NP685296.RAOSokOg1sqGMzJznME_PcbSmD0Uu3ub_zCO7pm2UglLg130_assertion
;
np:hasProvenance
dgn-np:NP685296.RAOSokOg1sqGMzJznME_PcbSmD0Uu3ub_zCO7pm2UglLg130_provenance
;
np:hasPublicationInfo
dgn-np:NP685296.RAOSokOg1sqGMzJznME_PcbSmD0Uu3ub_zCO7pm2UglLg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP685296.RAOSokOg1sqGMzJznME_PcbSmD0Uu3ub_zCO7pm2UglLg130_assertion
a
np:Assertion
.
dgn-np:NP685296.RAOSokOg1sqGMzJznME_PcbSmD0Uu3ub_zCO7pm2UglLg130_provenance
a
np:Provenance
.
dgn-np:NP685296.RAOSokOg1sqGMzJznME_PcbSmD0Uu3ub_zCO7pm2UglLg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP685296.RAOSokOg1sqGMzJznME_PcbSmD0Uu3ub_zCO7pm2UglLg130_assertion
{
miriam-gene:250
a
ncit:C16612
.
lld:C3266898
a
ncit:C7057
.
dgn-gda:DGN12842fadb983293b88af84c95632cb7f
sio:SIO_000628
miriam-gene:250
,
lld:C3266898
;
a
sio:SIO_001121
.
}
dgn-np:NP685296.RAOSokOg1sqGMzJznME_PcbSmD0Uu3ub_zCO7pm2UglLg130_provenance
{
dgn-np:NP685296.RAOSokOg1sqGMzJznME_PcbSmD0Uu3ub_zCO7pm2UglLg130_assertion
dcterms:description
"[Our findings, based on two-locus and multilocus analysis using a linkage map established from reference pedigrees, suggest that there are two or more mutations causing WS, one of which (i.e., WS1) is located on chromosome 2q, between the ALPP and FN1 loci, at distances of 7.8 cM and 11.2 cM for each marker, respectively.]. 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:1349198
;
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:NP685296.RAOSokOg1sqGMzJznME_PcbSmD0Uu3ub_zCO7pm2UglLg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:56+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" .
}