Functional evaluation of a novel nonsense variant of the calcium-sensing receptor gene leading to hypocalcemia.
Saglia C, Arruga F, Scolari C, Kalantari S, Albanese S, Bracciamà V, Corso Faini A, Brach Del Prever G, Luca M, Romeo C, et al. Eur J Endocrinol. 2024 Mar 30; 190(4):296-306.