Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.C7fs
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CASR

NM_000388.4:p.C7fs

Associated Papers

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

Cole DE et al.

Journal of Molecular Endocrinology, 2009

Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia.

D'Souza-Li L et al.

The Journal of Clinical Endocrinology and Metabolism, 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."