@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1358370.RA-sTFDaE61Lha0RDlVgiK7tDqUxu4g2F1zHgEzKhOP1I
> .
@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:NP1358370.RA-sTFDaE61Lha0RDlVgiK7tDqUxu4g2F1zHgEzKhOP1I130_head
{
this:
np:hasAssertion
dgn-np:NP1358370.RA-sTFDaE61Lha0RDlVgiK7tDqUxu4g2F1zHgEzKhOP1I130_assertion
;
np:hasProvenance
dgn-np:NP1358370.RA-sTFDaE61Lha0RDlVgiK7tDqUxu4g2F1zHgEzKhOP1I130_provenance
;
np:hasPublicationInfo
dgn-np:NP1358370.RA-sTFDaE61Lha0RDlVgiK7tDqUxu4g2F1zHgEzKhOP1I130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1358370.RA-sTFDaE61Lha0RDlVgiK7tDqUxu4g2F1zHgEzKhOP1I130_assertion
a
np:Assertion
.
dgn-np:NP1358370.RA-sTFDaE61Lha0RDlVgiK7tDqUxu4g2F1zHgEzKhOP1I130_provenance
a
np:Provenance
.
dgn-np:NP1358370.RA-sTFDaE61Lha0RDlVgiK7tDqUxu4g2F1zHgEzKhOP1I130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1358370.RA-sTFDaE61Lha0RDlVgiK7tDqUxu4g2F1zHgEzKhOP1I130_assertion
{
miriam-gene:1756
a
ncit:C16612
.
lld:C0013264
a
ncit:C7057
.
dgn-gda:DGN3710801688c4f2106b8a2f0a36373f8c
sio:SIO_000628
miriam-gene:1756
,
lld:C0013264
;
a
sio:SIO_001121
.
}
dgn-np:NP1358370.RA-sTFDaE61Lha0RDlVgiK7tDqUxu4g2F1zHgEzKhOP1I130_provenance
{
dgn-np:NP1358370.RA-sTFDaE61Lha0RDlVgiK7tDqUxu4g2F1zHgEzKhOP1I130_assertion
dcterms:description
"[It has been difficult to offer genetic counseling and prenatal diagnosis for Duchenne muscular dystrophy in the families of these isolated carriers, largely due to the difficulty in determining which of the dystrophin alleles segregating in the family harbors the mutation in the heterozygote.]. 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:8826437
;
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:NP1358370.RA-sTFDaE61Lha0RDlVgiK7tDqUxu4g2F1zHgEzKhOP1I130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:02+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" .
}