Varaico: Literature-Extracted Genetic Variants

Gene:SARDH
Variant:p.R614C
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SARDH

NM_001134707.2:p.R614C

Associated Papers

Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients.

Galleni Leão L et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2020

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.

Knuiman GJ et al.

Journal of Neurology, 2019

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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."