Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.E757K
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CASR

NM_000388.4:p.E757K

Associated Papers

Allosteric modulation and G-protein selectivity of the Ca2+-sensing receptor.

He F et al.

Nature, 2024

Autosomal dominant hypocalcemia with a novel CASR mutation: a case study and literature review.

Wu Y et al.

The Journal of International Medical Research, 2022

35818129 (PubMed )
Supplement: sj-pdf-1-imr-10.1177_03000605221110489.pdf

Autosomal dominant hypocalcaemia: identification of two novel variants of CASR gene.

Gomes V et al.

Bmj Case Reports, 2020

A novel CASR mutation (p.Glu757Lys) causing autosomal dominant hypocalcaemia type 1

Kwan B et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2018

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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."