Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP345477.RAnLhapmlZyAi1JFlZxkFAHcU-qE2ws-Nmdzm4DbN60pY130_assertion> ?p ?o ?g. }
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- NP345477.RAnLhapmlZyAi1JFlZxkFAHcU-qE2ws-Nmdzm4DbN60pY130_assertion type Assertion NP345477.RAnLhapmlZyAi1JFlZxkFAHcU-qE2ws-Nmdzm4DbN60pY130_head.
- NP345477.RAnLhapmlZyAi1JFlZxkFAHcU-qE2ws-Nmdzm4DbN60pY130_assertion description "[Patients with biallelic mutations in CYP24A1 present with severe hypercalcemia and nephrocalcinosis in infancy or hypercalciuria, kidney stones, and nephrocalcinosis in adulthood.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP345477.RAnLhapmlZyAi1JFlZxkFAHcU-qE2ws-Nmdzm4DbN60pY130_provenance.
- NP345477.RAnLhapmlZyAi1JFlZxkFAHcU-qE2ws-Nmdzm4DbN60pY130_assertion evidence source_evidence_literature NP345477.RAnLhapmlZyAi1JFlZxkFAHcU-qE2ws-Nmdzm4DbN60pY130_provenance.
- NP345477.RAnLhapmlZyAi1JFlZxkFAHcU-qE2ws-Nmdzm4DbN60pY130_assertion SIO_000772 25446019 NP345477.RAnLhapmlZyAi1JFlZxkFAHcU-qE2ws-Nmdzm4DbN60pY130_provenance.
- NP345477.RAnLhapmlZyAi1JFlZxkFAHcU-qE2ws-Nmdzm4DbN60pY130_assertion wasDerivedFrom befree-20150227 NP345477.RAnLhapmlZyAi1JFlZxkFAHcU-qE2ws-Nmdzm4DbN60pY130_provenance.
- NP345477.RAnLhapmlZyAi1JFlZxkFAHcU-qE2ws-Nmdzm4DbN60pY130_assertion wasGeneratedBy ECO_0000203 NP345477.RAnLhapmlZyAi1JFlZxkFAHcU-qE2ws-Nmdzm4DbN60pY130_provenance.