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http://rdf.disgenet.org/resource/nanopub/NP811467.RAyPZZZIohmacWNR3XTK1TNxUSECY7PA5u9T5Ywjc1XCM
> .
@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/v3.0.0/void/
> .
dgn-np:NP811467.RAyPZZZIohmacWNR3XTK1TNxUSECY7PA5u9T5Ywjc1XCM130_head
{
this:
np:hasAssertion
dgn-np:NP811467.RAyPZZZIohmacWNR3XTK1TNxUSECY7PA5u9T5Ywjc1XCM130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP811467.RAyPZZZIohmacWNR3XTK1TNxUSECY7PA5u9T5Ywjc1XCM130_publicationInfo
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a
np:Nanopublication
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dgn-np:NP811467.RAyPZZZIohmacWNR3XTK1TNxUSECY7PA5u9T5Ywjc1XCM130_assertion
a
np:Assertion
.
dgn-np:NP811467.RAyPZZZIohmacWNR3XTK1TNxUSECY7PA5u9T5Ywjc1XCM130_provenance
a
np:Provenance
.
dgn-np:NP811467.RAyPZZZIohmacWNR3XTK1TNxUSECY7PA5u9T5Ywjc1XCM130_publicationInfo
a
np:PublicationInfo
.
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dgn-np:NP811467.RAyPZZZIohmacWNR3XTK1TNxUSECY7PA5u9T5Ywjc1XCM130_assertion
{
miriam-gene:8929
a
ncit:C16612
.
lld:C0009806
a
ncit:C7057
.
dgn-gda:DGN536c25fdaaefb932be10346c41d26034
sio:SIO_000628
miriam-gene:8929
,
lld:C0009806
;
a
sio:SIO_001121
.
}
dgn-np:NP811467.RAyPZZZIohmacWNR3XTK1TNxUSECY7PA5u9T5Ywjc1XCM130_provenance
{
dgn-np:NP811467.RAyPZZZIohmacWNR3XTK1TNxUSECY7PA5u9T5Ywjc1XCM130_assertion
dcterms:description
"[Recommended management options aimed toward maximizing safety and optimizing neurocognitive outcome include: (1) biannual then annual in-hospital comprehensive evaluation with (i) physiologic studies during awake and asleep states to assess ventilatory needs during varying levels of activity and concentration, in all stages of sleep, with spontaneous breathing, and with artificial ventilation, and to assess ventilatory responsiveness to physiologic challenges while awake and asleep, (ii) 72-hour Holter monitoring, (iii) echocardiogram, (iv) evaluation of ANS dysregulation across all organ systems affected by the ANS, and (v) formal neurocognitive assessment; (2) barium enema or manometry and/or full thickness rectal biopsy for patients with a history of constipation; and (3) imaging for neural crest tumors in individuals at greatest risk based on PHOX2B mutation.]. 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:20208042
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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 .
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dgn-np:NP811467.RAyPZZZIohmacWNR3XTK1TNxUSECY7PA5u9T5Ywjc1XCM130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
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> ;
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dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
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prv:usedData
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pav:authoredBy
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> , <
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> , <
http://orcid.org/0000-0002-9383-528X
> , <
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> , <
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> ;
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> ;
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