Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.A826T
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CASR

NM_000388.4:p.A826T

Associated Papers

Calcium-Sensing Receptor Gene Polymorphisms (CASRV1 and CASRV2) and the Physical Activity Level of Men in Lower Silesia, Poland.

Zagrodna A et al.

Frontiers in Genetics, 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

Residue 826 in the calcium-sensing receptor is implicated in the response to calcium and to R-568 calcimimetic compound.

Alvarez-Hernández D et al.

Calcified Tissue International, 2010

Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene.

Tõke J et al.

Clinical Endocrinology, 2007

Genetic variation at the calcium-sensing receptor (CASR) locus: implications for clinical molecular diagnostics.

Yun FH et al.

Clinical Biochemistry, 2007

[Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor].

Watanabe S et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002

Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.

Hendy GN et al.

Human Mutation, 2000

No evidence for mutations in the calcium-sensing receptor gene in sporadic parathyroid adenomas.

Cetani F et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 1999

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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."