@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP1173640.RAWr132-dAZFReR6K7p7Zh8Ehj-N3M7V8U61K8oWUct58130_head { this: np:hasAssertion dgn-np:NP1173640.RAWr132-dAZFReR6K7p7Zh8Ehj-N3M7V8U61K8oWUct58130_assertion; np:hasProvenance dgn-np:NP1173640.RAWr132-dAZFReR6K7p7Zh8Ehj-N3M7V8U61K8oWUct58130_provenance; np:hasPublicationInfo dgn-np:NP1173640.RAWr132-dAZFReR6K7p7Zh8Ehj-N3M7V8U61K8oWUct58130_publicationInfo; a np:Nanopublication . dgn-np:NP1173640.RAWr132-dAZFReR6K7p7Zh8Ehj-N3M7V8U61K8oWUct58130_assertion a np:Assertion . dgn-np:NP1173640.RAWr132-dAZFReR6K7p7Zh8Ehj-N3M7V8U61K8oWUct58130_provenance a np:Provenance . dgn-np:NP1173640.RAWr132-dAZFReR6K7p7Zh8Ehj-N3M7V8U61K8oWUct58130_publicationInfo a np:PublicationInfo . } dgn-np:NP1173640.RAWr132-dAZFReR6K7p7Zh8Ehj-N3M7V8U61K8oWUct58130_assertion { miriam-gene:7066 a ncit:C16612 . lld:C0018021 a ncit:C7057 . dgn-gda:DGN61984e537e35ea2e6a9f040ad33746db sio:SIO_000628 miriam-gene:7066, lld:C0018021; a sio:SIO_001121 . } dgn-np:NP1173640.RAWr132-dAZFReR6K7p7Zh8Ehj-N3M7V8U61K8oWUct58130_provenance { dgn-np:NP1173640.RAWr132-dAZFReR6K7p7Zh8Ehj-N3M7V8U61K8oWUct58130_assertion dcterms:description "[The aim of this study was to screen for DUOX2, TPO and TG mutations in Chinese patients with congenital hypothyroidism (CH) and goitre and to define the relationships between DUOX2 genotypes and clinical phenotypes.]. 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:24735383; 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:NP1173640.RAWr132-dAZFReR6K7p7Zh8Ehj-N3M7V8U61K8oWUct58130_publicationInfo { this: dcterms:created "2016-05-13T12:50:38+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }