Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.V268del1
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CASR

NM_000388.4:p.V268del1

Associated Papers

Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.

Cardoso L et al.

Human Mutation, 2017

Mutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis.

Livadariu E et al.

European Journal of Endocrinology, 2011

G protein-coupled receptors disrupted in human genetic disease.

Thompson MD et al.

Methods in Molecular Biology (clifton, N.j.), 2008

Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds.

Simonds WF et al.

Medicine, 2002

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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."