@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP21334.RAQLCk-uZEqqi4Bi0oK5Mlh1g6GGBCehQUuYk5OYvQT-4
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP21334.RAQLCk-uZEqqi4Bi0oK5Mlh1g6GGBCehQUuYk5OYvQT-4130_head
{
this:
np:hasAssertion
dgn-np:NP21334.RAQLCk-uZEqqi4Bi0oK5Mlh1g6GGBCehQUuYk5OYvQT-4130_assertion
;
np:hasProvenance
dgn-np:NP21334.RAQLCk-uZEqqi4Bi0oK5Mlh1g6GGBCehQUuYk5OYvQT-4130_provenance
;
np:hasPublicationInfo
dgn-np:NP21334.RAQLCk-uZEqqi4Bi0oK5Mlh1g6GGBCehQUuYk5OYvQT-4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP21334.RAQLCk-uZEqqi4Bi0oK5Mlh1g6GGBCehQUuYk5OYvQT-4130_assertion
a
np:Assertion
.
dgn-np:NP21334.RAQLCk-uZEqqi4Bi0oK5Mlh1g6GGBCehQUuYk5OYvQT-4130_provenance
a
np:Provenance
.
dgn-np:NP21334.RAQLCk-uZEqqi4Bi0oK5Mlh1g6GGBCehQUuYk5OYvQT-4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP21334.RAQLCk-uZEqqi4Bi0oK5Mlh1g6GGBCehQUuYk5OYvQT-4130_assertion
{
miriam-gene:3912
a
ncit:C16612
.
lld:C0004352
a
ncit:C7057
.
dgn-gda:DGN780312d853b85ed8b2f1378f12559ac8
sio:SIO_000628
miriam-gene:3912
,
lld:C0004352
;
a
sio:SIO_001121
.
}
dgn-np:NP21334.RAQLCk-uZEqqi4Bi0oK5Mlh1g6GGBCehQUuYk5OYvQT-4130_provenance
{
dgn-np:NP21334.RAQLCk-uZEqqi4Bi0oK5Mlh1g6GGBCehQUuYk5OYvQT-4130_assertion
dcterms:description
"[Screening for mutations in six genes mapping to 7q, CUTL1, SRPK2, SYPL, LAMB1, NRCAM and PTPRZ1 in 48 unrelated individuals with autism led to the identification of several new coding variants in the genes CUTL1, LAMB1 and PTPRZ1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:15523497
;
prov:wasDerivedFrom
dgn-void:ctd_human-20130708
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20130708
pav:importedOn
"2013-07-24"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP21334.RAQLCk-uZEqqi4Bi0oK5Mlh1g6GGBCehQUuYk5OYvQT-4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:08+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}