@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:NP743702.RA59X9YgqaURkKH13C5q35L_PjSqhJygdFQ3XdKDwtjqE130_head { this: np:hasAssertion dgn-np:NP743702.RA59X9YgqaURkKH13C5q35L_PjSqhJygdFQ3XdKDwtjqE130_assertion; np:hasProvenance dgn-np:NP743702.RA59X9YgqaURkKH13C5q35L_PjSqhJygdFQ3XdKDwtjqE130_provenance; np:hasPublicationInfo dgn-np:NP743702.RA59X9YgqaURkKH13C5q35L_PjSqhJygdFQ3XdKDwtjqE130_publicationInfo; a np:Nanopublication . dgn-np:NP743702.RA59X9YgqaURkKH13C5q35L_PjSqhJygdFQ3XdKDwtjqE130_assertion a np:Assertion . dgn-np:NP743702.RA59X9YgqaURkKH13C5q35L_PjSqhJygdFQ3XdKDwtjqE130_provenance a np:Provenance . dgn-np:NP743702.RA59X9YgqaURkKH13C5q35L_PjSqhJygdFQ3XdKDwtjqE130_publicationInfo a np:PublicationInfo . } dgn-np:NP743702.RA59X9YgqaURkKH13C5q35L_PjSqhJygdFQ3XdKDwtjqE130_assertion { miriam-gene:1896 a ncit:C16612 . lld:C0162359 a ncit:C7057 . dgn-gda:DGN8a948c01491778993367808e9788f1e9 sio:SIO_000628 miriam-gene:1896, lld:C0162359; a sio:SIO_001121 . } dgn-np:NP743702.RA59X9YgqaURkKH13C5q35L_PjSqhJygdFQ3XdKDwtjqE130_provenance { dgn-np:NP743702.RA59X9YgqaURkKH13C5q35L_PjSqhJygdFQ3XdKDwtjqE130_assertion dcterms:description "[We also present a new mutation in the EDA gene which causes selective tooth agenesis and demonstrates the phenotype variation that can be encountered in the ectodermal dysplasia syndrome (HED) with the highest prevalence worldwide.]. 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:19504606; 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:NP743702.RA59X9YgqaURkKH13C5q35L_PjSqhJygdFQ3XdKDwtjqE130_publicationInfo { this: dcterms:created "2016-05-13T12:47:22+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" . }