Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.C765W
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CASR

NM_000388.4:p.C765W

Associated Papers

Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient.

Wu B et al.

Bone Research, 2017

A novel CASR mutation in a Tunisian FHH/NSHPT family associated with a mental retardation.

Sfar S et al.

Molecular Biology Reports, 2012

Identification and functional characterization of loss-of-function mutations of the calcium-sensing receptor in four Italian kindreds with familial hypocalciuric hypercalcemia.

Cetani F et al.

European Journal of Endocrinology, 2009

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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."