Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP972559.RA51dJIAYo0o1LSDpbYWWSAgBjTa92ddkbpE9t-MhX39U130_assertion> ?p ?o ?g. }
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- NP972559.RA51dJIAYo0o1LSDpbYWWSAgBjTa92ddkbpE9t-MhX39U130_assertion type Assertion NP972559.RA51dJIAYo0o1LSDpbYWWSAgBjTa92ddkbpE9t-MhX39U130_head.
- NP972559.RA51dJIAYo0o1LSDpbYWWSAgBjTa92ddkbpE9t-MhX39U130_assertion description "[Heterozygous inactivating mutations of the calcium-sensing receptor (CaR) gene cause familial hypocalciuric hypercalcaemia (FHH), a generally benign disorder characterized by mild to moderate PTH-dependent hypercalcaemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP972559.RA51dJIAYo0o1LSDpbYWWSAgBjTa92ddkbpE9t-MhX39U130_provenance.
- NP972559.RA51dJIAYo0o1LSDpbYWWSAgBjTa92ddkbpE9t-MhX39U130_assertion evidence source_evidence_literature NP972559.RA51dJIAYo0o1LSDpbYWWSAgBjTa92ddkbpE9t-MhX39U130_provenance.
- NP972559.RA51dJIAYo0o1LSDpbYWWSAgBjTa92ddkbpE9t-MhX39U130_assertion SIO_000772 16649980 NP972559.RA51dJIAYo0o1LSDpbYWWSAgBjTa92ddkbpE9t-MhX39U130_provenance.
- NP972559.RA51dJIAYo0o1LSDpbYWWSAgBjTa92ddkbpE9t-MhX39U130_assertion wasDerivedFrom befree-20150227 NP972559.RA51dJIAYo0o1LSDpbYWWSAgBjTa92ddkbpE9t-MhX39U130_provenance.
- NP972559.RA51dJIAYo0o1LSDpbYWWSAgBjTa92ddkbpE9t-MhX39U130_assertion wasGeneratedBy ECO_0000203 NP972559.RA51dJIAYo0o1LSDpbYWWSAgBjTa92ddkbpE9t-MhX39U130_provenance.