Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.S1065delFs
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CASR

NM_000388.4:p.S1065delFs

Associated Papers

A novel CASR variant in a family with familial hypocalciuric hypercalcaemia and primary hyperparathyroidism.

Sagi SV et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2020

A patient with primary hyperparathyroidism associated with familial hypocalciuric hypercalcemia induced by a novel germline CaSR gene mutation.

Yabuta T et al.

Asian Journal of Surgery, 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."