Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP668581.RAv-zCZ9nziprQfjFi_w1ij3bUs00fgb9-tUoDVaGA2ZE130_assertion> ?p ?o ?g. }
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- NP668581.RAv-zCZ9nziprQfjFi_w1ij3bUs00fgb9-tUoDVaGA2ZE130_assertion type Assertion NP668581.RAv-zCZ9nziprQfjFi_w1ij3bUs00fgb9-tUoDVaGA2ZE130_head.
- NP668581.RAv-zCZ9nziprQfjFi_w1ij3bUs00fgb9-tUoDVaGA2ZE130_assertion description "[Dent's disease, an X-linked disorder characterized by low molecular weight proteinuria, hypercalciuria and nephrolithiasis, is due to mutations of the chloride/proton antiporter 5, CLC-5; ADHH is associated with activating mutations of the CaSR, which is a G-protein-coupled receptor; hypophosphatemic hypercalciuric nephrolithiasis associated with rickets is due to mutations in the type 2c sodium-phosphate co-transporter (NPT2c); and familial hypomagnesemia with hypercalciuria is due to mutations of paracellin-1, which is a member of the claudin family of membrane proteins that form the intercellular tight junction barrier in a variety of epithelia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP668581.RAv-zCZ9nziprQfjFi_w1ij3bUs00fgb9-tUoDVaGA2ZE130_provenance.
- NP668581.RAv-zCZ9nziprQfjFi_w1ij3bUs00fgb9-tUoDVaGA2ZE130_assertion evidence source_evidence_literature NP668581.RAv-zCZ9nziprQfjFi_w1ij3bUs00fgb9-tUoDVaGA2ZE130_provenance.
- NP668581.RAv-zCZ9nziprQfjFi_w1ij3bUs00fgb9-tUoDVaGA2ZE130_assertion SIO_000772 18446382 NP668581.RAv-zCZ9nziprQfjFi_w1ij3bUs00fgb9-tUoDVaGA2ZE130_provenance.
- NP668581.RAv-zCZ9nziprQfjFi_w1ij3bUs00fgb9-tUoDVaGA2ZE130_assertion wasDerivedFrom befree-2016 NP668581.RAv-zCZ9nziprQfjFi_w1ij3bUs00fgb9-tUoDVaGA2ZE130_provenance.
- NP668581.RAv-zCZ9nziprQfjFi_w1ij3bUs00fgb9-tUoDVaGA2ZE130_assertion wasGeneratedBy ECO_0000203 NP668581.RAv-zCZ9nziprQfjFi_w1ij3bUs00fgb9-tUoDVaGA2ZE130_provenance.