@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:NP217029.RAixoRFyMcEpSxYR9ONA1FmebK11Xx5NtM9SCo8-YF4ZY130_head { this: np:hasAssertion dgn-np:NP217029.RAixoRFyMcEpSxYR9ONA1FmebK11Xx5NtM9SCo8-YF4ZY130_assertion; np:hasProvenance dgn-np:NP217029.RAixoRFyMcEpSxYR9ONA1FmebK11Xx5NtM9SCo8-YF4ZY130_provenance; np:hasPublicationInfo dgn-np:NP217029.RAixoRFyMcEpSxYR9ONA1FmebK11Xx5NtM9SCo8-YF4ZY130_publicationInfo; a np:Nanopublication . dgn-np:NP217029.RAixoRFyMcEpSxYR9ONA1FmebK11Xx5NtM9SCo8-YF4ZY130_assertion a np:Assertion . dgn-np:NP217029.RAixoRFyMcEpSxYR9ONA1FmebK11Xx5NtM9SCo8-YF4ZY130_provenance a np:Provenance . dgn-np:NP217029.RAixoRFyMcEpSxYR9ONA1FmebK11Xx5NtM9SCo8-YF4ZY130_publicationInfo a np:PublicationInfo . } dgn-np:NP217029.RAixoRFyMcEpSxYR9ONA1FmebK11Xx5NtM9SCo8-YF4ZY130_assertion { miriam-gene:846 a ncit:C16612 . lld:C0020626 a ncit:C7057 . dgn-gda:DGN4bd1e7abc1e4249b97c979b1a4b06545 sio:SIO_000628 miriam-gene:846, lld:C0020626; a sio:SIO_001121 . } dgn-np:NP217029.RAixoRFyMcEpSxYR9ONA1FmebK11Xx5NtM9SCo8-YF4ZY130_provenance { dgn-np:NP217029.RAixoRFyMcEpSxYR9ONA1FmebK11Xx5NtM9SCo8-YF4ZY130_assertion dcterms:description "[Two members of generation II and one member of generation III were also documented with hypoparathyroidism, short stature, and premature osteoarthritis evident as early as 11 yr. Because of the known association between autosomal dominant hypoparathyroidism and activating mutations of the calcium-sensing receptor (CaR) gene, further studies were performed.]. 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:10487661; 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:NP217029.RAixoRFyMcEpSxYR9ONA1FmebK11Xx5NtM9SCo8-YF4ZY130_publicationInfo { this: dcterms:created "2014-10-02T12:34:00+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" . }