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Article

Identification of molecular phenotypes and biased signaling induced by naturally occurring mutations of the human calcium-sensing receptor.

Endocrinology - 1 Sept 2012

Leach Katie, Wen Adriel, Davey Anna E, Sexton Patrick M, Conigrave Arthur D, Christopoulos Arthur

Abstract excerpt

More than 200 naturally occurring mutations have been identified in the human CaSR, which have been linked to diseases involving dysregulation of extracellular Ca(2+) homeostasis. These mutations have classically been termed "loss-" or "gain-of-function" mutations, which is an oversimplification...

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Source

Identifiers

PMID: 22798347
DOI: 10.1210/en.2012-1449

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22798347-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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