Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.*1079Q
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CASR

NM_000388.4:p.*1079Q

Associated Papers

Think twice: a rare calcium sensing receptor mutation and a new diagnosis of familial hypocalciuric hypercalcaemia.

Tellam JJ et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2020

Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years.

Guarnieri V et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

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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."