@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:NP468089.RAZdVOYgXiXeADyIceucPB5STWSEU-3kQfvts3Ll1b9yw130_head { this: np:hasAssertion dgn-np:NP468089.RAZdVOYgXiXeADyIceucPB5STWSEU-3kQfvts3Ll1b9yw130_assertion; np:hasProvenance dgn-np:NP468089.RAZdVOYgXiXeADyIceucPB5STWSEU-3kQfvts3Ll1b9yw130_provenance; np:hasPublicationInfo dgn-np:NP468089.RAZdVOYgXiXeADyIceucPB5STWSEU-3kQfvts3Ll1b9yw130_publicationInfo; a np:Nanopublication . dgn-np:NP468089.RAZdVOYgXiXeADyIceucPB5STWSEU-3kQfvts3Ll1b9yw130_assertion a np:Assertion . dgn-np:NP468089.RAZdVOYgXiXeADyIceucPB5STWSEU-3kQfvts3Ll1b9yw130_provenance a np:Provenance . dgn-np:NP468089.RAZdVOYgXiXeADyIceucPB5STWSEU-3kQfvts3Ll1b9yw130_publicationInfo a np:PublicationInfo . } dgn-np:NP468089.RAZdVOYgXiXeADyIceucPB5STWSEU-3kQfvts3Ll1b9yw130_assertion { miriam-gene:10269 a ncit:C16612 . lld:C0432291 a ncit:C7057 . dgn-gda:DGN41f384c364ac8c88e105551321bbf5fb sio:SIO_000628 miriam-gene:10269, lld:C0432291; a sio:SIO_001121 . } dgn-np:NP468089.RAZdVOYgXiXeADyIceucPB5STWSEU-3kQfvts3Ll1b9yw130_provenance { dgn-np:NP468089.RAZdVOYgXiXeADyIceucPB5STWSEU-3kQfvts3Ll1b9yw130_assertion dcterms:description "[We reviewed the literature on cases of MAD associated with proven LMNA and ZMPSTE24 mutations and found that the unusual features described above were all substantially more prevalent in patients with mutations in ZMPSTE24 than in those with LMNA mutations.]. 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:20550970; 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:NP468089.RAZdVOYgXiXeADyIceucPB5STWSEU-3kQfvts3Ll1b9yw130_publicationInfo { this: dcterms:created "2014-10-02T12:36:40+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" . }