@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:NP871226.RAow6XHq8S5GhgACMDghcnL6OrnZS1t5e6xEbYEulLFR4130_head { this: np:hasAssertion dgn-np:NP871226.RAow6XHq8S5GhgACMDghcnL6OrnZS1t5e6xEbYEulLFR4130_assertion; np:hasProvenance dgn-np:NP871226.RAow6XHq8S5GhgACMDghcnL6OrnZS1t5e6xEbYEulLFR4130_provenance; np:hasPublicationInfo dgn-np:NP871226.RAow6XHq8S5GhgACMDghcnL6OrnZS1t5e6xEbYEulLFR4130_publicationInfo; a np:Nanopublication . dgn-np:NP871226.RAow6XHq8S5GhgACMDghcnL6OrnZS1t5e6xEbYEulLFR4130_assertion a np:Assertion . dgn-np:NP871226.RAow6XHq8S5GhgACMDghcnL6OrnZS1t5e6xEbYEulLFR4130_provenance a np:Provenance . dgn-np:NP871226.RAow6XHq8S5GhgACMDghcnL6OrnZS1t5e6xEbYEulLFR4130_publicationInfo a np:PublicationInfo . } dgn-np:NP871226.RAow6XHq8S5GhgACMDghcnL6OrnZS1t5e6xEbYEulLFR4130_assertion { miriam-gene:7031 a ncit:C16612 . lld:C1846647 a ncit:C7057 . dgn-gda:DGN9dcb24e475f2c1c1de73c13aab9993e1 sio:SIO_000628 miriam-gene:7031, lld:C1846647; a sio:SIO_001121 . } dgn-np:NP871226.RAow6XHq8S5GhgACMDghcnL6OrnZS1t5e6xEbYEulLFR4130_provenance { dgn-np:NP871226.RAow6XHq8S5GhgACMDghcnL6OrnZS1t5e6xEbYEulLFR4130_assertion dcterms:description "[In order to identify candidate genes for Down syndrome phenotypes or monogenic disorders that map to human chromosome 21q22.3, we have used genomic sequence and expressed sequence tags mapping to an autosomal recessive deafness (DFNB10) critical region to isolate a novel 2.5-kb cDNA that maps between TFF1 and D21S49.]. 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:11281453; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP871226.RAow6XHq8S5GhgACMDghcnL6OrnZS1t5e6xEbYEulLFR4130_publicationInfo { this: dcterms:created "2014-10-02T12:40:52+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }