Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP943585.RACo0CsnoMtshB-ER2a9gpXuSC4SzLex7p7rRHoEVD1o0130_assertion> ?p ?o ?g. }
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- NP943585.RACo0CsnoMtshB-ER2a9gpXuSC4SzLex7p7rRHoEVD1o0130_assertion type Assertion NP943585.RACo0CsnoMtshB-ER2a9gpXuSC4SzLex7p7rRHoEVD1o0130_head.
- 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.