@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP489255.RA-qEK2scU3VTD_T5fd8swumC50tuEDfyX5aFwxIME2qk
> .
@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:NP489255.RA-qEK2scU3VTD_T5fd8swumC50tuEDfyX5aFwxIME2qk130_head
{
this:
np:hasAssertion
dgn-np:NP489255.RA-qEK2scU3VTD_T5fd8swumC50tuEDfyX5aFwxIME2qk130_assertion
;
np:hasProvenance
dgn-np:NP489255.RA-qEK2scU3VTD_T5fd8swumC50tuEDfyX5aFwxIME2qk130_provenance
;
np:hasPublicationInfo
dgn-np:NP489255.RA-qEK2scU3VTD_T5fd8swumC50tuEDfyX5aFwxIME2qk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP489255.RA-qEK2scU3VTD_T5fd8swumC50tuEDfyX5aFwxIME2qk130_assertion
a
np:Assertion
.
dgn-np:NP489255.RA-qEK2scU3VTD_T5fd8swumC50tuEDfyX5aFwxIME2qk130_provenance
a
np:Provenance
.
dgn-np:NP489255.RA-qEK2scU3VTD_T5fd8swumC50tuEDfyX5aFwxIME2qk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP489255.RA-qEK2scU3VTD_T5fd8swumC50tuEDfyX5aFwxIME2qk130_assertion
{
miriam-gene:1013
a
ncit:C16612
.
lld:C0730292
a
ncit:C7057
.
dgn-gda:DGN89c44b86e906ebd7f7c875a0094fe37a
sio:SIO_000628
miriam-gene:1013
,
lld:C0730292
;
a
sio:SIO_001121
.
}
dgn-np:NP489255.RA-qEK2scU3VTD_T5fd8swumC50tuEDfyX5aFwxIME2qk130_provenance
{
dgn-np:NP489255.RA-qEK2scU3VTD_T5fd8swumC50tuEDfyX5aFwxIME2qk130_assertion
dcterms:description
"[Altogether, our results obtained in a series of families of various ethnic origins firmly establish mutations in CDH3 as the proximal cause of hypotrichosis with juvenile macular dystrophy and demonstrate genetic homogeneity as well as phenotypic heterogeneity in this disorder.]. 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:14708629
;
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:NP489255.RA-qEK2scU3VTD_T5fd8swumC50tuEDfyX5aFwxIME2qk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:52+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" .
}