Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.D126V
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CASR

NM_000388.4:p.D126V

Associated Papers

G protein-coupled receptor (GPCR) gene variants and human genetic disease.

Thompson MD et al.

Critical Reviews in Clinical Laboratory Sciences, 2024

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

Identification and Functional Characterization of a Novel Mutation in the Human Calcium-Sensing Receptor That Co-Segregates With Autosomal-Dominant Hypocalcemia.

Rasmussen AQ et al.

Frontiers in Endocrinology, 2018

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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."