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http://rdf.disgenet.org/nanopublications.trig#NP514184.RA3HCzdbMLImbffpz9LaadeV6sKOodR9QSPWSB6dLqwS8
> .
@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#
> .
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{
this:
np:hasAssertion
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;
np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP514184.RA3HCzdbMLImbffpz9LaadeV6sKOodR9QSPWSB6dLqwS8130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP514184.RA3HCzdbMLImbffpz9LaadeV6sKOodR9QSPWSB6dLqwS8130_assertion
a
np:Assertion
.
dgn-np:NP514184.RA3HCzdbMLImbffpz9LaadeV6sKOodR9QSPWSB6dLqwS8130_provenance
a
np:Provenance
.
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a
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.
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{
miriam-gene:124583
a
ncit:C16612
.
lld:C0432242
a
ncit:C7057
.
dgn-gda:DGNa1582cc40b5109c8f18467e02e54eca9
sio:SIO_000628
miriam-gene:124583
,
lld:C0432242
;
a
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.
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dgn-np:NP514184.RA3HCzdbMLImbffpz9LaadeV6sKOodR9QSPWSB6dLqwS8130_provenance
{
dgn-np:NP514184.RA3HCzdbMLImbffpz9LaadeV6sKOodR9QSPWSB6dLqwS8130_assertion
dcterms:description
"[We screened CANT1 and CHST3 in 38 DD cases (6 type 1 patients, 1 Kim variant, and 31 type 2 patients) and found CANT1 mutations in all DD type 1 cases, the Kim variant and in one atypical DD type 2 expanding the clinical spectrum of hand anomalies observed with CANT1 mutations.]. 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:22539336
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP514184.RA3HCzdbMLImbffpz9LaadeV6sKOodR9QSPWSB6dLqwS8130_publicationInfo
{
this:
dcterms:created
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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
<
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> , <
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> , <
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
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