Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.I32V
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CASR

NM_000388.4:p.I32V

Associated Papers

Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.

Mouly C et al.

Clinical Endocrinology, 2020

Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia.

Szalat A et al.

Endocrine, 2017

Calcium-sensing receptor sequencing in 21 patients with idiopathic or familial parathyroid disorder: pitfalls and characterization of a novel I32 V loss-of-function mutation.

Szalat A et al.

Endocrine, 2015

Cardiometabolic phenotyping of patients with familial hypocalcuric hypercalcemia.

Wolf P et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

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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."