Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.S247insFs
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CASR

NM_000388.4:p.S247insFs

Associated Papers

One in a billion: a patient with Marfan syndrome and familial hypocalciuric hypercalcaemia.

Ann Tee S et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2021

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
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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."