Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.F788L
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CASR

NM_000388.4:p.F788L

Associated Papers

Case Report: Calcium sensing receptor gene gain of function mutations: a case series and report of 2 novel mutations.

Ali DS et al.

Frontiers in Endocrinology, 2023

Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis.

Hannan FM et al.

Journal of Molecular Endocrinology, 2016

Inherited disorders of calcium homeostasis.

Ramasamy I

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008

Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene.

Hendy GN 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."