Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.R795delFs
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CASR

NM_000388.4:p.R795delFs

Associated Papers

A Novel Mutation of the Calcium-Sensing Receptor Gene Causing Familial Hypocalciuric Hypercalcemia Complicates Medical Followup after Roux-en-Y Gastric Bypass: A Case Report and a Summary of Mutations Found in the Same Hospital Laboratory.

Carlsson ER et al.

Case Reports in Endocrinology, 2019

30895164 (PubMed )
Supplement: 9468252.f1.pdf

Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years.

Guarnieri V et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

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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."