@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP708400.RAb_1xn4hiRl6Sf3L62TFd1RrmkqBKEFZup4v5qnHJSKM
> .
@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:NP708400.RAb_1xn4hiRl6Sf3L62TFd1RrmkqBKEFZup4v5qnHJSKM130_head
{
this:
np:hasAssertion
dgn-np:NP708400.RAb_1xn4hiRl6Sf3L62TFd1RrmkqBKEFZup4v5qnHJSKM130_assertion
;
np:hasProvenance
dgn-np:NP708400.RAb_1xn4hiRl6Sf3L62TFd1RrmkqBKEFZup4v5qnHJSKM130_provenance
;
np:hasPublicationInfo
dgn-np:NP708400.RAb_1xn4hiRl6Sf3L62TFd1RrmkqBKEFZup4v5qnHJSKM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP708400.RAb_1xn4hiRl6Sf3L62TFd1RrmkqBKEFZup4v5qnHJSKM130_assertion
a
np:Assertion
.
dgn-np:NP708400.RAb_1xn4hiRl6Sf3L62TFd1RrmkqBKEFZup4v5qnHJSKM130_provenance
a
np:Provenance
.
dgn-np:NP708400.RAb_1xn4hiRl6Sf3L62TFd1RrmkqBKEFZup4v5qnHJSKM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP708400.RAb_1xn4hiRl6Sf3L62TFd1RrmkqBKEFZup4v5qnHJSKM130_assertion
{
miriam-gene:1756
a
ncit:C16612
.
lld:C0025362
a
ncit:C7057
.
dgn-gda:DGNc21cf2c2a47bb655c171b893124ee4d4
sio:SIO_000628
miriam-gene:1756
,
lld:C0025362
;
a
sio:SIO_001121
.
}
dgn-np:NP708400.RAb_1xn4hiRl6Sf3L62TFd1RrmkqBKEFZup4v5qnHJSKM130_provenance
{
dgn-np:NP708400.RAb_1xn4hiRl6Sf3L62TFd1RrmkqBKEFZup4v5qnHJSKM130_assertion
dcterms:description
"[Given the familial and therapeutic implications for accurate diagnosis of DMD mutations, this case raises the possible need for screening boys with global developmental delay/intellectual disability even in the absence of any overt muscle weakness and further shows the utility of comparative genomic hybridization (CGH) analysis in the evaluation of patients with nonsyndromic mental retardation.]. 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:19073314
;
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:NP708400.RAb_1xn4hiRl6Sf3L62TFd1RrmkqBKEFZup4v5qnHJSKM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:06+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" .
}