@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP59550.RAZLwR2TCDHWjmkWzL2w0Q799lI_UMFWNB37FZ-s4ZR8o
> .
@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:NP59550.RAZLwR2TCDHWjmkWzL2w0Q799lI_UMFWNB37FZ-s4ZR8o130_head
{
this:
np:hasAssertion
dgn-np:NP59550.RAZLwR2TCDHWjmkWzL2w0Q799lI_UMFWNB37FZ-s4ZR8o130_assertion
;
np:hasProvenance
dgn-np:NP59550.RAZLwR2TCDHWjmkWzL2w0Q799lI_UMFWNB37FZ-s4ZR8o130_provenance
;
np:hasPublicationInfo
dgn-np:NP59550.RAZLwR2TCDHWjmkWzL2w0Q799lI_UMFWNB37FZ-s4ZR8o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP59550.RAZLwR2TCDHWjmkWzL2w0Q799lI_UMFWNB37FZ-s4ZR8o130_assertion
a
np:Assertion
.
dgn-np:NP59550.RAZLwR2TCDHWjmkWzL2w0Q799lI_UMFWNB37FZ-s4ZR8o130_provenance
a
np:Provenance
.
dgn-np:NP59550.RAZLwR2TCDHWjmkWzL2w0Q799lI_UMFWNB37FZ-s4ZR8o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP59550.RAZLwR2TCDHWjmkWzL2w0Q799lI_UMFWNB37FZ-s4ZR8o130_assertion
{
miriam-gene:34
a
ncit:C16612
.
lld:C0154251
a
ncit:C7057
.
dgn-gda:DGNa25f1e05a8f8e52b358f65cb312c5222
sio:SIO_000628
miriam-gene:34
,
lld:C0154251
;
a
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.
}
dgn-np:NP59550.RAZLwR2TCDHWjmkWzL2w0Q799lI_UMFWNB37FZ-s4ZR8o130_provenance
{
dgn-np:NP59550.RAZLwR2TCDHWjmkWzL2w0Q799lI_UMFWNB37FZ-s4ZR8o130_assertion
dcterms:description
"[These findings indicated that the frequency distribution of heterozygotes is not random within this population. Group C was further divided into C1, the 26 heterozygotes, and C2, the remaining 74 newborns in group C. In group C1 only 2 (8%) were in the 'high-risk' group characterized by either low birth weight or requiring admission to the neonatal intensive care unit. In contrast, 28 (38%) from C2 had low birth weight or were in the neonatal intensive care unit. In our dataset, C(8)/C(2) and C(8)/C(12) ratios were also significantly elevated in both groups C1 and C2 compared to controls (group B). In contrast to what others have reported, the ratio of C(8)/C(10) did not differentiate the group B controls from heterozygotes or other patients in metabolic distress (group C2), but were lower than those seen in classic MCAD or mild MCAD deficiency.]. 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:14970748
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP59550.RAZLwR2TCDHWjmkWzL2w0Q799lI_UMFWNB37FZ-s4ZR8o130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:28+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" .
}