Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1378311.RAvnL8jx4GpjC1N-zyIFdoFn48-6xC6q3CAzwhe6yJ0jk130_assertion> ?p ?o ?g. }
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- NP1378311.RAvnL8jx4GpjC1N-zyIFdoFn48-6xC6q3CAzwhe6yJ0jk130_assertion type Assertion NP1378311.RAvnL8jx4GpjC1N-zyIFdoFn48-6xC6q3CAzwhe6yJ0jk130_head.
- NP1378311.RAvnL8jx4GpjC1N-zyIFdoFn48-6xC6q3CAzwhe6yJ0jk130_assertion description "[Activating mutations of the Ca(2+)-sensing receptor (CaR) gene have been identified in families with autosomal dominant hypoparathyroidism and in one patient with sporadic hypoparathyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1378311.RAvnL8jx4GpjC1N-zyIFdoFn48-6xC6q3CAzwhe6yJ0jk130_provenance.
- NP1378311.RAvnL8jx4GpjC1N-zyIFdoFn48-6xC6q3CAzwhe6yJ0jk130_assertion evidence source_evidence_literature NP1378311.RAvnL8jx4GpjC1N-zyIFdoFn48-6xC6q3CAzwhe6yJ0jk130_provenance.
- NP1378311.RAvnL8jx4GpjC1N-zyIFdoFn48-6xC6q3CAzwhe6yJ0jk130_assertion SIO_000772 9253358 NP1378311.RAvnL8jx4GpjC1N-zyIFdoFn48-6xC6q3CAzwhe6yJ0jk130_provenance.
- NP1378311.RAvnL8jx4GpjC1N-zyIFdoFn48-6xC6q3CAzwhe6yJ0jk130_assertion wasDerivedFrom befree-2016 NP1378311.RAvnL8jx4GpjC1N-zyIFdoFn48-6xC6q3CAzwhe6yJ0jk130_provenance.
- NP1378311.RAvnL8jx4GpjC1N-zyIFdoFn48-6xC6q3CAzwhe6yJ0jk130_assertion wasGeneratedBy ECO_0000203 NP1378311.RAvnL8jx4GpjC1N-zyIFdoFn48-6xC6q3CAzwhe6yJ0jk130_provenance.