@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1102538.RAnYMLjDUxOooFT1CcZAXl59B1NvmGeNhk1M3gMJ5U1XY
> .
@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:NP1102538.RAnYMLjDUxOooFT1CcZAXl59B1NvmGeNhk1M3gMJ5U1XY130_head
{
this:
np:hasAssertion
dgn-np:NP1102538.RAnYMLjDUxOooFT1CcZAXl59B1NvmGeNhk1M3gMJ5U1XY130_assertion
;
np:hasProvenance
dgn-np:NP1102538.RAnYMLjDUxOooFT1CcZAXl59B1NvmGeNhk1M3gMJ5U1XY130_provenance
;
np:hasPublicationInfo
dgn-np:NP1102538.RAnYMLjDUxOooFT1CcZAXl59B1NvmGeNhk1M3gMJ5U1XY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1102538.RAnYMLjDUxOooFT1CcZAXl59B1NvmGeNhk1M3gMJ5U1XY130_assertion
a
np:Assertion
.
dgn-np:NP1102538.RAnYMLjDUxOooFT1CcZAXl59B1NvmGeNhk1M3gMJ5U1XY130_provenance
a
np:Provenance
.
dgn-np:NP1102538.RAnYMLjDUxOooFT1CcZAXl59B1NvmGeNhk1M3gMJ5U1XY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1102538.RAnYMLjDUxOooFT1CcZAXl59B1NvmGeNhk1M3gMJ5U1XY130_assertion
{
miriam-gene:472
a
ncit:C16612
.
lld:C0393610
a
ncit:C7057
.
dgn-gda:DGN6563586fe39791ae1f311460608044f5
sio:SIO_000628
miriam-gene:472
,
lld:C0393610
;
a
sio:SIO_001121
.
}
dgn-np:NP1102538.RAnYMLjDUxOooFT1CcZAXl59B1NvmGeNhk1M3gMJ5U1XY130_provenance
{
dgn-np:NP1102538.RAnYMLjDUxOooFT1CcZAXl59B1NvmGeNhk1M3gMJ5U1XY130_assertion
dcterms:description
"[Biallelic mutations in ATM can cause DRD, and mutations in this gene should be considered in the differential diagnosis of unexplained DRD, particularly if the dystonia is cervical and if there is a recessive family history.]. 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:23946315
;
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:NP1102538.RAnYMLjDUxOooFT1CcZAXl59B1NvmGeNhk1M3gMJ5U1XY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:05+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" .
}