Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1378317.RAh2bcQtjyowmGtasWCW47kW-sp9LxmQ86HEySa06aySY130_assertion> ?p ?o ?g. }
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- NP1378317.RAh2bcQtjyowmGtasWCW47kW-sp9LxmQ86HEySa06aySY130_assertion type Assertion NP1378317.RAh2bcQtjyowmGtasWCW47kW-sp9LxmQ86HEySa06aySY130_head.
- NP1378317.RAh2bcQtjyowmGtasWCW47kW-sp9LxmQ86HEySa06aySY130_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." NP1378317.RAh2bcQtjyowmGtasWCW47kW-sp9LxmQ86HEySa06aySY130_provenance.
- NP1378317.RAh2bcQtjyowmGtasWCW47kW-sp9LxmQ86HEySa06aySY130_assertion evidence source_evidence_literature NP1378317.RAh2bcQtjyowmGtasWCW47kW-sp9LxmQ86HEySa06aySY130_provenance.
- NP1378317.RAh2bcQtjyowmGtasWCW47kW-sp9LxmQ86HEySa06aySY130_assertion SIO_000772 9253358 NP1378317.RAh2bcQtjyowmGtasWCW47kW-sp9LxmQ86HEySa06aySY130_provenance.
- NP1378317.RAh2bcQtjyowmGtasWCW47kW-sp9LxmQ86HEySa06aySY130_assertion wasDerivedFrom befree-2016 NP1378317.RAh2bcQtjyowmGtasWCW47kW-sp9LxmQ86HEySa06aySY130_provenance.
- NP1378317.RAh2bcQtjyowmGtasWCW47kW-sp9LxmQ86HEySa06aySY130_assertion wasGeneratedBy ECO_0000203 NP1378317.RAh2bcQtjyowmGtasWCW47kW-sp9LxmQ86HEySa06aySY130_provenance.