@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:NP614896.RA3j6WQjO3_z2nFVNqpQzsd02t2KAUaDbBig2CoAMs7l4130_head { this: np:hasAssertion dgn-np:NP614896.RA3j6WQjO3_z2nFVNqpQzsd02t2KAUaDbBig2CoAMs7l4130_assertion; np:hasProvenance dgn-np:NP614896.RA3j6WQjO3_z2nFVNqpQzsd02t2KAUaDbBig2CoAMs7l4130_provenance; np:hasPublicationInfo dgn-np:NP614896.RA3j6WQjO3_z2nFVNqpQzsd02t2KAUaDbBig2CoAMs7l4130_publicationInfo; a np:Nanopublication . dgn-np:NP614896.RA3j6WQjO3_z2nFVNqpQzsd02t2KAUaDbBig2CoAMs7l4130_assertion a np:Assertion . dgn-np:NP614896.RA3j6WQjO3_z2nFVNqpQzsd02t2KAUaDbBig2CoAMs7l4130_provenance a np:Provenance . dgn-np:NP614896.RA3j6WQjO3_z2nFVNqpQzsd02t2KAUaDbBig2CoAMs7l4130_publicationInfo a np:PublicationInfo . } dgn-np:NP614896.RA3j6WQjO3_z2nFVNqpQzsd02t2KAUaDbBig2CoAMs7l4130_assertion { miriam-gene:55636 a ncit:C16612 . lld:C0271623 a ncit:C7057 . dgn-gda:DGN05b06c18aa5a69ff1dfcc2c721ff19a4 sio:SIO_000628 miriam-gene:55636, lld:C0271623; a sio:SIO_001121 . } dgn-np:NP614896.RA3j6WQjO3_z2nFVNqpQzsd02t2KAUaDbBig2CoAMs7l4130_provenance { dgn-np:NP614896.RA3j6WQjO3_z2nFVNqpQzsd02t2KAUaDbBig2CoAMs7l4130_assertion dcterms:description "[Substantial variation in clinical expression, from complete anosmia and hypogonadotropic hypogonadism to delayed puberty and normosmia, of the same Kallmann syndrome gene defects including in newer ones (FGF8 and CHD7) continues to be repeatedly observed.]. 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:20543690; 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:NP614896.RA3j6WQjO3_z2nFVNqpQzsd02t2KAUaDbBig2CoAMs7l4130_publicationInfo { this: dcterms:created "2014-10-02T12:38:11+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" . }