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http://rdf.disgenet.org/nanopublications.trig#NP552201.RAiuvN5mxEtSUX7dlpk1R2KEmzgiF5D7VAi-Xi1cTakCU
> .
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http://www.w3.org/2000/01/rdf-schema#
> .
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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#
> .
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{
this:
np:hasAssertion
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dgn-np:NP552201.RAiuvN5mxEtSUX7dlpk1R2KEmzgiF5D7VAi-Xi1cTakCU130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP552201.RAiuvN5mxEtSUX7dlpk1R2KEmzgiF5D7VAi-Xi1cTakCU130_assertion
a
np:Assertion
.
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a
np:Provenance
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{
miriam-gene:5741
a
ncit:C16612
.
lld:C0033835
a
ncit:C7057
.
dgn-gda:DGN0b566c1b79a2bdd7fa30facbdce73391
sio:SIO_000628
miriam-gene:5741
,
lld:C0033835
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a
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.
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dgn-np:NP552201.RAiuvN5mxEtSUX7dlpk1R2KEmzgiF5D7VAi-Xi1cTakCU130_provenance
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dgn-np:NP552201.RAiuvN5mxEtSUX7dlpk1R2KEmzgiF5D7VAi-Xi1cTakCU130_assertion
dcterms:description
"[Interestingly, paternal transmission of GNAS1 mutations leads to the AHO phenotype alone (pseudopseudohypoparathyroidism), while maternal transmission leads to AHO plus resistance to several hormones (e.g., PTH, TSH) that activate G(s) in their target tissues (pseudohypoparathyroidism type IA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
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dgn-void:source_evidence_literature
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sio:SIO_000772
miriam-pubmed:11588148
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eco:ECO_0000203
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dgn-void:befree-20140225
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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dgn-np:NP552201.RAiuvN5mxEtSUX7dlpk1R2KEmzgiF5D7VAi-Xi1cTakCU130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
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> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
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prv:usedData
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> , <
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