Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP252552.RAZwj_CTrYPzfmVmCzYHt16QmX0wsCps457up3_6bf1CI130_assertion> ?p ?o ?g. }
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- NP252552.RAZwj_CTrYPzfmVmCzYHt16QmX0wsCps457up3_6bf1CI130_assertion type Assertion NP252552.RAZwj_CTrYPzfmVmCzYHt16QmX0wsCps457up3_6bf1CI130_head.
- NP252552.RAZwj_CTrYPzfmVmCzYHt16QmX0wsCps457up3_6bf1CI130_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." NP252552.RAZwj_CTrYPzfmVmCzYHt16QmX0wsCps457up3_6bf1CI130_provenance.
- NP252552.RAZwj_CTrYPzfmVmCzYHt16QmX0wsCps457up3_6bf1CI130_assertion evidence source_evidence_literature NP252552.RAZwj_CTrYPzfmVmCzYHt16QmX0wsCps457up3_6bf1CI130_provenance.
- NP252552.RAZwj_CTrYPzfmVmCzYHt16QmX0wsCps457up3_6bf1CI130_assertion SIO_000772 9253358 NP252552.RAZwj_CTrYPzfmVmCzYHt16QmX0wsCps457up3_6bf1CI130_provenance.
- NP252552.RAZwj_CTrYPzfmVmCzYHt16QmX0wsCps457up3_6bf1CI130_assertion wasDerivedFrom befree-20150227 NP252552.RAZwj_CTrYPzfmVmCzYHt16QmX0wsCps457up3_6bf1CI130_provenance.
- NP252552.RAZwj_CTrYPzfmVmCzYHt16QmX0wsCps457up3_6bf1CI130_assertion wasGeneratedBy ECO_0000203 NP252552.RAZwj_CTrYPzfmVmCzYHt16QmX0wsCps457up3_6bf1CI130_provenance.