Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.R62Splc
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CASR

NM_000388.4:p.R62Splc

Associated Papers

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

Yun FH et al.

Clinical Biochemistry, 2007

An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

D'Souza-Li L et al.

Human Mutation, 2001

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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."