Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.L125F
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CASR

NM_000388.4:p.L125F

Associated Papers

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1

Evolutionary history of calcium-sensing receptors unveils hyper/hypocalcemia-causing mutations.

Bircan A et al.

Plos Computational Biology, 2024

Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis.

Hannan FM et al.

Journal of Molecular Endocrinology, 2016

Novel Mutation in the CASR Gene (p.Leu123Ser) in a Case of Autosomal Dominant Hypocalcemia.

Regala J et al.

Journal of Pediatric Genetics, 2015

Calcium-sensing receptor mutations and denaturing high performance liquid chromatography.

Cole DE et al.

Journal of Molecular Endocrinology, 2009

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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."