Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.M74_F76delFs
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CASR

NM_000388.4:p.M74_F76delFs

Associated Papers

The efficiency of cinacalcet treatment in delaying parathyroidectomy in a case with neonatal severe hyperparathyroidism caused by homozygous mutation in the CASR gene.

Özgüç Çömlek F et al.

Pediatric Endocrinology, Diabetes, and Metabolism, 2022

A novel case of neonatal severe hyperparathyroidism successfully treated with a type II calcimimetic drug.

Leunbach TL et al.

Bone Reports, 2021

Cinacalcet as a First-Line Treatment in Neonatal Severe Hyperparathyroidism Secondary to Calcium Sensing Receptor (CaSR) Mutation.

Gulcan-Kersin S et al.

Hormone Research in Paediatrics, 2020

GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts.

Mayr B et al.

European Journal of Endocrinology, 2016

Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism-lack of effect of cinacalcet.

Atay Z et al.

Bone, 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."