Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.P136L
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CASR

NM_000388.4:p.P136L

Associated Papers

Pediatric hypoparathyroidism: etiological and clinical evaluation in a tertiary center.

Kocabey Sütçü Z et al.

Endocrine, 2025

CASRdb: A Publicly Accessible Comprehensive Database for Disease-Associated Calcium-Sensing Receptor Variants.

Charoenngam N et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

A cell function study on calcium regulation of a novel calcium-sensing receptor mutation (p.Tyr825Phe).

Moon JE et al.

Annals of Pediatric Endocrinology & Metabolism, 2021

Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia.

Baran N et al.

Molecular and Cellular Endocrinology, 2015

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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."