Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1S
Variant:p.T852M
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CACNA1S

NM_000069.3:p.T852M

Associated Papers

Defining the origin, evolution, and immune composition of SDH-deficient renal cell carcinoma.

Neves JB et al.

Iscience, 2022

36345344 (PubMed )
Supplement: mmc3.xlsx › Somatic_mutations

Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.

Fridriksdottir R et al.

European Journal of Human Genetics : Ejhg, 2021

34462577 (PubMed )
Supplement: 41431_2021_954_MOESM2_ESM.xlsx › CACNA1S_MAF_0.1_

Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review.

Kraeva N et al.

Canadian Journal of Anaesthesia = Journal Canadien D'anesthesie, 2017

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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."