Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.W293*
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CASR

NM_000388.4:p.W293*

Associated Papers

Identification and functional characterization of a novel nonsense mutation of CASR gene in a familial hypocalciuric hypercalcemia pedigree.

Tian Y et al.

Genes & Diseases, 2026

41624914 (PubMed )
Supplement: mmc1.docx

Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population.

Dershem R et al.

American Journal of Human Genetics, 2020

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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."