@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII
> .
@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:NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII130_head
{
this:
np:hasAssertion
dgn-np:NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII130_assertion
;
np:hasProvenance
dgn-np:NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII130_provenance
;
np:hasPublicationInfo
dgn-np:NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII130_assertion
a
np:Assertion
.
dgn-np:NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII130_provenance
a
np:Provenance
.
dgn-np:NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII130_assertion
{
miriam-gene:1300
a
ncit:C16612
.
lld:C0039743
a
ncit:C7057
.
dgn-gda:DGN8c17ed76d3a94278df51b90bebd0a861
sio:SIO_000628
miriam-gene:1300
,
lld:C0039743
;
a
sio:SIO_001121
.
}
dgn-np:NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII130_provenance
{
dgn-np:NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII130_assertion
dcterms:description
"[We investigated whether mutations within the human COL10A1 gene were responsible for causing the disorders achondroplasia, hypochondroplasia, pseudoachondroplasia, and thanatophoric dysplasia, by analyzing the coding regions of the gene by using PCR and the single-stranded conformational polymorphism technique.]. 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:1329505
;
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:NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:00+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" .
}