@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1281450.RAIfncd3-TDZm6hOnECoV3_SJOrEtvDZQir9sllxM7lz8
> .
@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:NP1281450.RAIfncd3-TDZm6hOnECoV3_SJOrEtvDZQir9sllxM7lz8130_head
{
this:
np:hasAssertion
dgn-np:NP1281450.RAIfncd3-TDZm6hOnECoV3_SJOrEtvDZQir9sllxM7lz8130_assertion
;
np:hasProvenance
dgn-np:NP1281450.RAIfncd3-TDZm6hOnECoV3_SJOrEtvDZQir9sllxM7lz8130_provenance
;
np:hasPublicationInfo
dgn-np:NP1281450.RAIfncd3-TDZm6hOnECoV3_SJOrEtvDZQir9sllxM7lz8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1281450.RAIfncd3-TDZm6hOnECoV3_SJOrEtvDZQir9sllxM7lz8130_assertion
a
np:Assertion
.
dgn-np:NP1281450.RAIfncd3-TDZm6hOnECoV3_SJOrEtvDZQir9sllxM7lz8130_provenance
a
np:Provenance
.
dgn-np:NP1281450.RAIfncd3-TDZm6hOnECoV3_SJOrEtvDZQir9sllxM7lz8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1281450.RAIfncd3-TDZm6hOnECoV3_SJOrEtvDZQir9sllxM7lz8130_assertion
{
miriam-gene:147372
a
ncit:C16612
.
lld:C0270814
a
ncit:C7057
.
dgn-gda:DGNb344675d9ecffde263203587a9a10302
sio:SIO_000628
miriam-gene:147372
,
lld:C0270814
;
a
sio:SIO_001122
.
}
dgn-np:NP1281450.RAIfncd3-TDZm6hOnECoV3_SJOrEtvDZQir9sllxM7lz8130_provenance
{
dgn-np:NP1281450.RAIfncd3-TDZm6hOnECoV3_SJOrEtvDZQir9sllxM7lz8130_assertion
dcterms:description
"[We identified several large stretches of homozygosity in the patient that allowed us to sort the variants found in the patient's exome to identify p.C98W in CCBE1 as the likely pathogenic variant.]. 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:25925991
;
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:NP1281450.RAIfncd3-TDZm6hOnECoV3_SJOrEtvDZQir9sllxM7lz8130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:27+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" .
}