@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1280662.RAehw64Hqkj5kR43h2M-debhmzFYbYOy4wADT1BYRxjGE
> .
@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:NP1280662.RAehw64Hqkj5kR43h2M-debhmzFYbYOy4wADT1BYRxjGE130_head
{
this:
np:hasAssertion
dgn-np:NP1280662.RAehw64Hqkj5kR43h2M-debhmzFYbYOy4wADT1BYRxjGE130_assertion
;
np:hasProvenance
dgn-np:NP1280662.RAehw64Hqkj5kR43h2M-debhmzFYbYOy4wADT1BYRxjGE130_provenance
;
np:hasPublicationInfo
dgn-np:NP1280662.RAehw64Hqkj5kR43h2M-debhmzFYbYOy4wADT1BYRxjGE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1280662.RAehw64Hqkj5kR43h2M-debhmzFYbYOy4wADT1BYRxjGE130_assertion
a
np:Assertion
.
dgn-np:NP1280662.RAehw64Hqkj5kR43h2M-debhmzFYbYOy4wADT1BYRxjGE130_provenance
a
np:Provenance
.
dgn-np:NP1280662.RAehw64Hqkj5kR43h2M-debhmzFYbYOy4wADT1BYRxjGE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1280662.RAehw64Hqkj5kR43h2M-debhmzFYbYOy4wADT1BYRxjGE130_assertion
{
miriam-gene:58
a
ncit:C16612
.
lld:C0030552
a
ncit:C7057
.
dgn-gda:DGNe19bf021e9d63be8e1f8a22b57698a71
sio:SIO_000628
miriam-gene:58
,
lld:C0030552
;
a
sio:SIO_001121
.
}
dgn-np:NP1280662.RAehw64Hqkj5kR43h2M-debhmzFYbYOy4wADT1BYRxjGE130_provenance
{
dgn-np:NP1280662.RAehw64Hqkj5kR43h2M-debhmzFYbYOy4wADT1BYRxjGE130_assertion
dcterms:description
"[We conclude that mutations in ACTA1 can cause pathologic features consistent with myofibrillar myopathy, and mutations in ACTA1 should be considered in patients with severe congenital hypotonia associated with muscle weakness and features of myofibrillar myopathy.]. 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:25913210
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1280662.RAehw64Hqkj5kR43h2M-debhmzFYbYOy4wADT1BYRxjGE130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:26+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" .
}