@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP976684.RA0mdRRvr0vlU0Xvh5Sqw8RRCfnR3s4OlfUWh9IqlvIYA
> .
@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/v3.0.0/void/
> .
dgn-np:NP976684.RA0mdRRvr0vlU0Xvh5Sqw8RRCfnR3s4OlfUWh9IqlvIYA130_head
{
this:
np:hasAssertion
dgn-np:NP976684.RA0mdRRvr0vlU0Xvh5Sqw8RRCfnR3s4OlfUWh9IqlvIYA130_assertion
;
np:hasProvenance
dgn-np:NP976684.RA0mdRRvr0vlU0Xvh5Sqw8RRCfnR3s4OlfUWh9IqlvIYA130_provenance
;
np:hasPublicationInfo
dgn-np:NP976684.RA0mdRRvr0vlU0Xvh5Sqw8RRCfnR3s4OlfUWh9IqlvIYA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP976684.RA0mdRRvr0vlU0Xvh5Sqw8RRCfnR3s4OlfUWh9IqlvIYA130_assertion
a
np:Assertion
.
dgn-np:NP976684.RA0mdRRvr0vlU0Xvh5Sqw8RRCfnR3s4OlfUWh9IqlvIYA130_provenance
a
np:Provenance
.
dgn-np:NP976684.RA0mdRRvr0vlU0Xvh5Sqw8RRCfnR3s4OlfUWh9IqlvIYA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP976684.RA0mdRRvr0vlU0Xvh5Sqw8RRCfnR3s4OlfUWh9IqlvIYA130_assertion
{
miriam-gene:157680
a
ncit:C16612
.
lld:C0007965
a
ncit:C7057
.
dgn-gda:DGNce17b8c35102a906f285a845f77e4d50
sio:SIO_000628
miriam-gene:157680
,
lld:C0007965
;
a
sio:SIO_001121
.
}
dgn-np:NP976684.RA0mdRRvr0vlU0Xvh5Sqw8RRCfnR3s4OlfUWh9IqlvIYA130_provenance
{
dgn-np:NP976684.RA0mdRRvr0vlU0Xvh5Sqw8RRCfnR3s4OlfUWh9IqlvIYA130_assertion
dcterms:description
"[In patients with severe childhood CHS, we found only functionally null mutant CHS1 alleles, whereas in patients with the adolescent and adult forms of CHS we also found missense mutant alleles that likely encode CHS1 polypeptides with partial function.]. 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:11857544
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP976684.RA0mdRRvr0vlU0Xvh5Sqw8RRCfnR3s4OlfUWh9IqlvIYA130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:36+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}