Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.R614S
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RYR1

NM_000540.3:p.R614S

Associated Papers

Sudden death due to malignant hyperthermia with a mutation of RYR1: autopsy, morphology and genetic analysis.

Li W et al.

Forensic Science, Medicine, and Pathology, 2017

Segregation of malignant hyperthermia, central core disease and chromosome 19 markers.

Curran JL et al.

British Journal of Anaesthesia, 1999

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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."