Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1175649.RAs_jZqstRVrovNynM4jk1wY_BuJI3YPC7RQYZQVZNNdE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1175649.RAs_jZqstRVrovNynM4jk1wY_BuJI3YPC7RQYZQVZNNdE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1175649.RAs_jZqstRVrovNynM4jk1wY_BuJI3YPC7RQYZQVZNNdE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1175649.RAs_jZqstRVrovNynM4jk1wY_BuJI3YPC7RQYZQVZNNdE130_provenance.
- NP1175649.RAs_jZqstRVrovNynM4jk1wY_BuJI3YPC7RQYZQVZNNdE130_assertion description "[Urinary calcium to creatinine clearance ratio was low, and a subsequent genetic analysis confirmed a novel mutation (Q164K) in the calcium sensing receptor gene, consistent with familial hypocalciuric hypercalcaemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1175649.RAs_jZqstRVrovNynM4jk1wY_BuJI3YPC7RQYZQVZNNdE130_provenance.
- NP1175649.RAs_jZqstRVrovNynM4jk1wY_BuJI3YPC7RQYZQVZNNdE130_assertion evidence source_evidence_literature NP1175649.RAs_jZqstRVrovNynM4jk1wY_BuJI3YPC7RQYZQVZNNdE130_provenance.
- NP1175649.RAs_jZqstRVrovNynM4jk1wY_BuJI3YPC7RQYZQVZNNdE130_assertion SIO_000772 24754691 NP1175649.RAs_jZqstRVrovNynM4jk1wY_BuJI3YPC7RQYZQVZNNdE130_provenance.
- NP1175649.RAs_jZqstRVrovNynM4jk1wY_BuJI3YPC7RQYZQVZNNdE130_assertion wasDerivedFrom befree-2016 NP1175649.RAs_jZqstRVrovNynM4jk1wY_BuJI3YPC7RQYZQVZNNdE130_provenance.
- NP1175649.RAs_jZqstRVrovNynM4jk1wY_BuJI3YPC7RQYZQVZNNdE130_assertion wasGeneratedBy ECO_0000203 NP1175649.RAs_jZqstRVrovNynM4jk1wY_BuJI3YPC7RQYZQVZNNdE130_provenance.
- befree-2016 importedOn "2016-02-19" NP1175649.RAs_jZqstRVrovNynM4jk1wY_BuJI3YPC7RQYZQVZNNdE130_provenance.