Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP943585.RACo0CsnoMtshB-ER2a9gpXuSC4SzLex7p7rRHoEVD1o0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP943585.RACo0CsnoMtshB-ER2a9gpXuSC4SzLex7p7rRHoEVD1o0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP943585.RACo0CsnoMtshB-ER2a9gpXuSC4SzLex7p7rRHoEVD1o0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP943585.RACo0CsnoMtshB-ER2a9gpXuSC4SzLex7p7rRHoEVD1o0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP943585.RACo0CsnoMtshB-ER2a9gpXuSC4SzLex7p7rRHoEVD1o0130_provenance.
- NP943585.RACo0CsnoMtshB-ER2a9gpXuSC4SzLex7p7rRHoEVD1o0130_assertion wasGeneratedBy ECO_0000203 NP943585.RACo0CsnoMtshB-ER2a9gpXuSC4SzLex7p7rRHoEVD1o0130_provenance.
- NP943585.RACo0CsnoMtshB-ER2a9gpXuSC4SzLex7p7rRHoEVD1o0130_assertion wasDerivedFrom befree-20150227 NP943585.RACo0CsnoMtshB-ER2a9gpXuSC4SzLex7p7rRHoEVD1o0130_provenance.
- NP943585.RACo0CsnoMtshB-ER2a9gpXuSC4SzLex7p7rRHoEVD1o0130_assertion SIO_000772 24402736 NP943585.RACo0CsnoMtshB-ER2a9gpXuSC4SzLex7p7rRHoEVD1o0130_provenance.
- NP943585.RACo0CsnoMtshB-ER2a9gpXuSC4SzLex7p7rRHoEVD1o0130_assertion evidence source_evidence_literature NP943585.RACo0CsnoMtshB-ER2a9gpXuSC4SzLex7p7rRHoEVD1o0130_provenance.
- NP943585.RACo0CsnoMtshB-ER2a9gpXuSC4SzLex7p7rRHoEVD1o0130_assertion description "[In 2002, germline HRPT2 (also known as CDC73) mutation was reported as the cause of hyperparathyroidism-jaw tumor (HPT-JT) syndrome, an autosomal dominant hereditary tumor syndrome associated with a lifetime risk of parathyroid carcinoma approaching 15 %.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP943585.RACo0CsnoMtshB-ER2a9gpXuSC4SzLex7p7rRHoEVD1o0130_provenance.