@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP472184.RAlth4NRPN1bQjtE0H5bpZ0sGhCRjCICPROrDvgfGlWqw
> .
@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:NP472184.RAlth4NRPN1bQjtE0H5bpZ0sGhCRjCICPROrDvgfGlWqw130_head
{
this:
np:hasAssertion
dgn-np:NP472184.RAlth4NRPN1bQjtE0H5bpZ0sGhCRjCICPROrDvgfGlWqw130_assertion
;
np:hasProvenance
dgn-np:NP472184.RAlth4NRPN1bQjtE0H5bpZ0sGhCRjCICPROrDvgfGlWqw130_provenance
;
np:hasPublicationInfo
dgn-np:NP472184.RAlth4NRPN1bQjtE0H5bpZ0sGhCRjCICPROrDvgfGlWqw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP472184.RAlth4NRPN1bQjtE0H5bpZ0sGhCRjCICPROrDvgfGlWqw130_assertion
a
np:Assertion
.
dgn-np:NP472184.RAlth4NRPN1bQjtE0H5bpZ0sGhCRjCICPROrDvgfGlWqw130_provenance
a
np:Provenance
.
dgn-np:NP472184.RAlth4NRPN1bQjtE0H5bpZ0sGhCRjCICPROrDvgfGlWqw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP472184.RAlth4NRPN1bQjtE0H5bpZ0sGhCRjCICPROrDvgfGlWqw130_assertion
{
miriam-gene:3990
a
ncit:C16612
.
lld:C0020678
a
ncit:C7057
.
dgn-gda:DGN9b0269fe8d5a551531571b95e4f2c8d2
sio:SIO_000628
miriam-gene:3990
,
lld:C0020678
;
a
sio:SIO_001121
.
}
dgn-np:NP472184.RAlth4NRPN1bQjtE0H5bpZ0sGhCRjCICPROrDvgfGlWqw130_provenance
{
dgn-np:NP472184.RAlth4NRPN1bQjtE0H5bpZ0sGhCRjCICPROrDvgfGlWqw130_assertion
dcterms:description
"[The severity of hypotrichosis is known to be able to change in the clinical course, and the mutation patterns of LIPH do not always correlate with the severity of hypotrichosis in ARWH caused by other mutation sites of LIPH.]. 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:22449147
;
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:NP472184.RAlth4NRPN1bQjtE0H5bpZ0sGhCRjCICPROrDvgfGlWqw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:43+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" .
}