@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP478470.RAUnkLvu97quLP6AIXHYMvS3m7BQD-YYffsJSoXqzTDfc
> .
@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:NP478470.RAUnkLvu97quLP6AIXHYMvS3m7BQD-YYffsJSoXqzTDfc130_head
{
this:
np:hasAssertion
dgn-np:NP478470.RAUnkLvu97quLP6AIXHYMvS3m7BQD-YYffsJSoXqzTDfc130_assertion
;
np:hasProvenance
dgn-np:NP478470.RAUnkLvu97quLP6AIXHYMvS3m7BQD-YYffsJSoXqzTDfc130_provenance
;
np:hasPublicationInfo
dgn-np:NP478470.RAUnkLvu97quLP6AIXHYMvS3m7BQD-YYffsJSoXqzTDfc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP478470.RAUnkLvu97quLP6AIXHYMvS3m7BQD-YYffsJSoXqzTDfc130_assertion
a
np:Assertion
.
dgn-np:NP478470.RAUnkLvu97quLP6AIXHYMvS3m7BQD-YYffsJSoXqzTDfc130_provenance
a
np:Provenance
.
dgn-np:NP478470.RAUnkLvu97quLP6AIXHYMvS3m7BQD-YYffsJSoXqzTDfc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP478470.RAUnkLvu97quLP6AIXHYMvS3m7BQD-YYffsJSoXqzTDfc130_assertion
{
miriam-gene:4626
a
ncit:C16612
.
lld:C0265213
a
ncit:C7057
.
dgn-gda:DGN438cfa3b3fec5b01f213e60f8fa2a6c2
sio:SIO_000628
miriam-gene:4626
,
lld:C0265213
;
a
sio:SIO_001121
.
}
dgn-np:NP478470.RAUnkLvu97quLP6AIXHYMvS3m7BQD-YYffsJSoXqzTDfc130_provenance
{
dgn-np:NP478470.RAUnkLvu97quLP6AIXHYMvS3m7BQD-YYffsJSoXqzTDfc130_assertion
dcterms:description
"[This contention is further supported by the discovery that mutations in genes that encode components of the muscle contractile complex (MYH3, TPM2, TNNT3, TNNI2, and MYH8) cause congenital contractures, including clubfoot, in distal arthrogryposis (DA) syndromes.]. 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:21834041
;
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:NP478470.RAUnkLvu97quLP6AIXHYMvS3m7BQD-YYffsJSoXqzTDfc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:46+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" .
}