@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP944915.RA_h8u6zPonpprjynpbI7u1ajMUPbfPur9giV7Ziv5WC4
> .
@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:NP944915.RA_h8u6zPonpprjynpbI7u1ajMUPbfPur9giV7Ziv5WC4130_head
{
this:
np:hasAssertion
dgn-np:NP944915.RA_h8u6zPonpprjynpbI7u1ajMUPbfPur9giV7Ziv5WC4130_assertion
;
np:hasProvenance
dgn-np:NP944915.RA_h8u6zPonpprjynpbI7u1ajMUPbfPur9giV7Ziv5WC4130_provenance
;
np:hasPublicationInfo
dgn-np:NP944915.RA_h8u6zPonpprjynpbI7u1ajMUPbfPur9giV7Ziv5WC4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP944915.RA_h8u6zPonpprjynpbI7u1ajMUPbfPur9giV7Ziv5WC4130_assertion
a
np:Assertion
.
dgn-np:NP944915.RA_h8u6zPonpprjynpbI7u1ajMUPbfPur9giV7Ziv5WC4130_provenance
a
np:Provenance
.
dgn-np:NP944915.RA_h8u6zPonpprjynpbI7u1ajMUPbfPur9giV7Ziv5WC4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP944915.RA_h8u6zPonpprjynpbI7u1ajMUPbfPur9giV7Ziv5WC4130_assertion
{
miriam-gene:79659
a
ncit:C16612
.
lld:C0729233
a
ncit:C7057
.
dgn-gda:DGN4a4c13025dc8632fbc95d9e13a81ab15
sio:SIO_000628
miriam-gene:79659
,
lld:C0729233
;
a
sio:SIO_001121
.
}
dgn-np:NP944915.RA_h8u6zPonpprjynpbI7u1ajMUPbfPur9giV7Ziv5WC4130_provenance
{
dgn-np:NP944915.RA_h8u6zPonpprjynpbI7u1ajMUPbfPur9giV7Ziv5WC4130_assertion
dcterms:description
"[Significant variability exists in the course and severity of the thoracic phenotype, both between affected siblings with identical DYNC2H1 alleles and among individuals with different alleles, which suggests the DYNC2H1 phenotype might be subject to modifier alleles, non-genetic or epigenetic factors.]. 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:23456818
;
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:NP944915.RA_h8u6zPonpprjynpbI7u1ajMUPbfPur9giV7Ziv5WC4130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:17+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" .
}