Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.V728I
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CASR

NM_000388.4:p.V728I

Associated Papers

[Novel mutations in the calcium-sensing receptor encoding genes as a cause of familial hypocalciuric hypercalcemia].

Sarli M et al.

Medicina, 2025

Identification of rare and frequent variants of the CASR gene by high-resolution melting.

Nissen PH et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012

Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population.

Nissen PH et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor.

Tan YM et al.

The Journal of Clinical Endocrinology and Metabolism, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."