@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:NP825394.RA6ciJSom5rMy0ProP-u9L-JzpH9_Ap9NhvA-BmYOqsaU130_head { this: np:hasAssertion dgn-np:NP825394.RA6ciJSom5rMy0ProP-u9L-JzpH9_Ap9NhvA-BmYOqsaU130_assertion; np:hasProvenance dgn-np:NP825394.RA6ciJSom5rMy0ProP-u9L-JzpH9_Ap9NhvA-BmYOqsaU130_provenance; np:hasPublicationInfo dgn-np:NP825394.RA6ciJSom5rMy0ProP-u9L-JzpH9_Ap9NhvA-BmYOqsaU130_publicationInfo; a np:Nanopublication . dgn-np:NP825394.RA6ciJSom5rMy0ProP-u9L-JzpH9_Ap9NhvA-BmYOqsaU130_assertion a np:Assertion . dgn-np:NP825394.RA6ciJSom5rMy0ProP-u9L-JzpH9_Ap9NhvA-BmYOqsaU130_provenance a np:Provenance . dgn-np:NP825394.RA6ciJSom5rMy0ProP-u9L-JzpH9_Ap9NhvA-BmYOqsaU130_publicationInfo a np:PublicationInfo . } dgn-np:NP825394.RA6ciJSom5rMy0ProP-u9L-JzpH9_Ap9NhvA-BmYOqsaU130_assertion { miriam-gene:5979 a ncit:C16612 . lld:C0268397 a ncit:C7057 . dgn-gda:DGN44592f1b743d87a458a6fe4255dab766 sio:SIO_000628 miriam-gene:5979, lld:C0268397; a sio:SIO_001121 . } dgn-np:NP825394.RA6ciJSom5rMy0ProP-u9L-JzpH9_Ap9NhvA-BmYOqsaU130_provenance { dgn-np:NP825394.RA6ciJSom5rMy0ProP-u9L-JzpH9_Ap9NhvA-BmYOqsaU130_assertion dcterms:description "[Following the recent identification of specific germline mutations of the RET proto-oncogene in Multiple Endocrine Neoplasia type 2A (MEN2A) patients, we looked for mutations of this gene in a pedigree showing recurrence of MEN2A and localized Cutaneous Lichen Amyloidosis (CLA).]. 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:7914213; 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:NP825394.RA6ciJSom5rMy0ProP-u9L-JzpH9_Ap9NhvA-BmYOqsaU130_publicationInfo { this: dcterms:created "2014-10-02T12:40:25+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" . }