Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.E176K
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RYR1

NM_000540.3:p.E176K

Associated Papers

Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Denisova E et al.

Cancer Gene Therapy, 2022

34045664 (PubMed )
Supplement: 41417_2021_347_MOESM4_ESM.xls › C000-X88E7Z

Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation.

Wang HJ et al.

Nature Communications, 2020

33037202 (PubMed )
Supplement: 41467_2020_18865_MOESM3_ESM.xlsx › Supplementary_Table_1

Abnormal calcium signalling and the caffeine-halothane contracture test.

Figueroa L et al.

British Journal of Anaesthesia, 2019

30579404 (PubMed )
Supplement: mmc1.pdf

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."