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http://rdf.disgenet.org/resource/nanopub/NP1339152.RALU-dKxT3Oh3-H2MPj8NRD25cdZKbCVsFOE01fpRe1uA
> .
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> .
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> .
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http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
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> .
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http://purl.org/ontology/wi/core#
> .
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> .
@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-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v5.0.0/void/
> .
sub:head
{
this:
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np:hasProvenance
sub:provenance
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np:hasPublicationInfo
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a
np:Nanopublication
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dgn-gda:DGNe7a253e9877b14650cfd92f2297b142b
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lld:C0004364
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dcterms:description
"[We identified that variants rs11078928 and rs2014886 were associated with altered splicing of the GSDMB and TSFM genes respectively. rs11078928, present in the asthma and autoimmune disease susceptibility locus on chromosome 17q12-21, was associated with the production of a novel ? exon5-8 transcript of the GSDMB gene, and a separate decrease in the percentage of transcripts with inclusion of exon 6, whereas the multiple sclerosis susceptibility variant rs2014886, was associated with an alternative TFSM transcript encompassing a short cryptic exon within intron 2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
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miriam-pubmed:24044605
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prov:wasGeneratedBy
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dgn-void:BEFREE
pav:importedOn
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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
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sub:publicationInfo
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this:
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xsd:dateTime
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