@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP426951.RAdGBHhjPvVv48ij4C8-XM1bb2g3wE8sf0OODEmAWfaDA
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP426951.RAdGBHhjPvVv48ij4C8-XM1bb2g3wE8sf0OODEmAWfaDA130_head
{
this:
np:hasAssertion
dgn-np:NP426951.RAdGBHhjPvVv48ij4C8-XM1bb2g3wE8sf0OODEmAWfaDA130_assertion
;
np:hasProvenance
dgn-np:NP426951.RAdGBHhjPvVv48ij4C8-XM1bb2g3wE8sf0OODEmAWfaDA130_provenance
;
np:hasPublicationInfo
dgn-np:NP426951.RAdGBHhjPvVv48ij4C8-XM1bb2g3wE8sf0OODEmAWfaDA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP426951.RAdGBHhjPvVv48ij4C8-XM1bb2g3wE8sf0OODEmAWfaDA130_assertion
a
np:Assertion
.
dgn-np:NP426951.RAdGBHhjPvVv48ij4C8-XM1bb2g3wE8sf0OODEmAWfaDA130_provenance
a
np:Provenance
.
dgn-np:NP426951.RAdGBHhjPvVv48ij4C8-XM1bb2g3wE8sf0OODEmAWfaDA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP426951.RAdGBHhjPvVv48ij4C8-XM1bb2g3wE8sf0OODEmAWfaDA130_assertion
{
miriam-gene:1013
a
ncit:C16612
.
lld:C0339508
a
ncit:C7057
.
dgn-gda:DGNe405fa5060088c7d2bde7f96922153ad
sio:SIO_000628
miriam-gene:1013
,
lld:C0339508
;
a
sio:SIO_001121
.
}
dgn-np:NP426951.RAdGBHhjPvVv48ij4C8-XM1bb2g3wE8sf0OODEmAWfaDA130_provenance
{
dgn-np:NP426951.RAdGBHhjPvVv48ij4C8-XM1bb2g3wE8sf0OODEmAWfaDA130_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-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP426951.RAdGBHhjPvVv48ij4C8-XM1bb2g3wE8sf0OODEmAWfaDA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:58+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}