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CASRdb: A Publicly Accessible Comprehensive Database for Disease-Associated Calcium-Sensing Receptor Variants.

The Journal of clinical endocrinology and metabolism - 21 Jan 2025

Charoenngam Nipith, Wattanachayakul Phuuwadith, Mannstadt Michael

Abstract excerpt

CONTEXT: Genetic testing of the calcium-sensing receptor (CASR) gene is crucial for confirming diagnoses of familial hypocalciuric hypercalcemia type I (FHH1) and autosomal dominant hypocalcemia type I (ADH1). Therefore, we created a publicly accessible comprehensive database of the disease-causing variants of the CASR gene. EVIDENCE ACQUISITION: We used 2 sources for variant reports: (1) we conducted a...

Topics

Receptors, Calcium-Sensing
Humans
Hypercalcemia
Databases, Genetic
Genetic Variation
Hypoparathyroidism
Hypocalcemia
Hypercalciuria

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 39484850
DOI: 10.1210/clinem/dgae769

Genes

CASR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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