@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP81593.RA1rZ2X28oWIwtatS7evPShGEWtdPSQC2C6Unu4yjzYWU
> .
@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:NP81593.RA1rZ2X28oWIwtatS7evPShGEWtdPSQC2C6Unu4yjzYWU130_head
{
this:
np:hasAssertion
dgn-np:NP81593.RA1rZ2X28oWIwtatS7evPShGEWtdPSQC2C6Unu4yjzYWU130_assertion
;
np:hasProvenance
dgn-np:NP81593.RA1rZ2X28oWIwtatS7evPShGEWtdPSQC2C6Unu4yjzYWU130_provenance
;
np:hasPublicationInfo
dgn-np:NP81593.RA1rZ2X28oWIwtatS7evPShGEWtdPSQC2C6Unu4yjzYWU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP81593.RA1rZ2X28oWIwtatS7evPShGEWtdPSQC2C6Unu4yjzYWU130_assertion
a
np:Assertion
.
dgn-np:NP81593.RA1rZ2X28oWIwtatS7evPShGEWtdPSQC2C6Unu4yjzYWU130_provenance
a
np:Provenance
.
dgn-np:NP81593.RA1rZ2X28oWIwtatS7evPShGEWtdPSQC2C6Unu4yjzYWU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP81593.RA1rZ2X28oWIwtatS7evPShGEWtdPSQC2C6Unu4yjzYWU130_assertion
{
miriam-gene:472
a
ncit:C16612
.
lld:C0019829
a
ncit:C7057
.
dgn-gda:DGN3b0f8605512056125d445e441e615d7e
sio:SIO_000628
miriam-gene:472
,
lld:C0019829
;
a
sio:SIO_001122
.
}
dgn-np:NP81593.RA1rZ2X28oWIwtatS7evPShGEWtdPSQC2C6Unu4yjzYWU130_provenance
{
dgn-np:NP81593.RA1rZ2X28oWIwtatS7evPShGEWtdPSQC2C6Unu4yjzYWU130_assertion
dcterms:description
"[We conclude that the rare polymorphic variants of the ATM gene that we identified in children with HD encode functionally abnormal proteins, and we discuss the possible genetic risk factors for childhood HD.]. 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:12969974
;
prov:wasDerivedFrom
dgn-void:gad-20150221
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20150221
pav:importedOn
"2015-02-21"^^
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:NP81593.RA1rZ2X28oWIwtatS7evPShGEWtdPSQC2C6Unu4yjzYWU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:42:25+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" .
}