@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:NP639109.RAdWwWotEs8dCRWV5XioV12NZTIgiR1jO2Kv-kAqZ8f_U130_head { this: np:hasAssertion dgn-np:NP639109.RAdWwWotEs8dCRWV5XioV12NZTIgiR1jO2Kv-kAqZ8f_U130_assertion; np:hasProvenance dgn-np:NP639109.RAdWwWotEs8dCRWV5XioV12NZTIgiR1jO2Kv-kAqZ8f_U130_provenance; np:hasPublicationInfo dgn-np:NP639109.RAdWwWotEs8dCRWV5XioV12NZTIgiR1jO2Kv-kAqZ8f_U130_publicationInfo; a np:Nanopublication . dgn-np:NP639109.RAdWwWotEs8dCRWV5XioV12NZTIgiR1jO2Kv-kAqZ8f_U130_assertion a np:Assertion . dgn-np:NP639109.RAdWwWotEs8dCRWV5XioV12NZTIgiR1jO2Kv-kAqZ8f_U130_provenance a np:Provenance . dgn-np:NP639109.RAdWwWotEs8dCRWV5XioV12NZTIgiR1jO2Kv-kAqZ8f_U130_publicationInfo a np:PublicationInfo . } dgn-np:NP639109.RAdWwWotEs8dCRWV5XioV12NZTIgiR1jO2Kv-kAqZ8f_U130_assertion { miriam-gene:6046 a ncit:C16612 . lld:C1856716 a ncit:C7057 . dgn-gda:DGN7f54edd2f9ca462abda980efba52d712 sio:SIO_000628 miriam-gene:6046, lld:C1856716; a sio:SIO_001121 . } dgn-np:NP639109.RAdWwWotEs8dCRWV5XioV12NZTIgiR1jO2Kv-kAqZ8f_U130_provenance { dgn-np:NP639109.RAdWwWotEs8dCRWV5XioV12NZTIgiR1jO2Kv-kAqZ8f_U130_assertion dcterms:description "[Unexpectedly, these siblings with isolated FSH deficiency due to a nonsense FSH beta mutation had some evidence of puberty, suggesting that other factors might preserve gonadal steroidogenesis in the absence of FSH or that current bioassays cannot discriminate among very low FSH levels.]. 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:12161499; 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:NP639109.RAdWwWotEs8dCRWV5XioV12NZTIgiR1jO2Kv-kAqZ8f_U130_publicationInfo { this: dcterms:created "2014-10-02T12:38:25+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" . }