Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP3775.RAVLPUb93R8Fzj74I_7wQ9ZQhapvjaAB8aEYKVgphN2_M130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3775.RAVLPUb93R8Fzj74I_7wQ9ZQhapvjaAB8aEYKVgphN2_M130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3775.RAVLPUb93R8Fzj74I_7wQ9ZQhapvjaAB8aEYKVgphN2_M130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3775.RAVLPUb93R8Fzj74I_7wQ9ZQhapvjaAB8aEYKVgphN2_M130_provenance.
- NP3775.RAVLPUb93R8Fzj74I_7wQ9ZQhapvjaAB8aEYKVgphN2_M130_assertion description "[Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3775.RAVLPUb93R8Fzj74I_7wQ9ZQhapvjaAB8aEYKVgphN2_M130_provenance.
- NP3775.RAVLPUb93R8Fzj74I_7wQ9ZQhapvjaAB8aEYKVgphN2_M130_assertion evidence source_evidence_curated NP3775.RAVLPUb93R8Fzj74I_7wQ9ZQhapvjaAB8aEYKVgphN2_M130_provenance.
- NP3775.RAVLPUb93R8Fzj74I_7wQ9ZQhapvjaAB8aEYKVgphN2_M130_assertion SIO_000772 15572418 NP3775.RAVLPUb93R8Fzj74I_7wQ9ZQhapvjaAB8aEYKVgphN2_M130_provenance.
- NP3775.RAVLPUb93R8Fzj74I_7wQ9ZQhapvjaAB8aEYKVgphN2_M130_assertion wasDerivedFrom uniprot-2016 NP3775.RAVLPUb93R8Fzj74I_7wQ9ZQhapvjaAB8aEYKVgphN2_M130_provenance.
- NP3775.RAVLPUb93R8Fzj74I_7wQ9ZQhapvjaAB8aEYKVgphN2_M130_assertion wasGeneratedBy ECO_0000218 NP3775.RAVLPUb93R8Fzj74I_7wQ9ZQhapvjaAB8aEYKVgphN2_M130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP3775.RAVLPUb93R8Fzj74I_7wQ9ZQhapvjaAB8aEYKVgphN2_M130_provenance.