Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.G2183E
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RYR1

NM_000540.3:p.G2183E

Associated Papers

Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families.

Gillies RL et al.

Anaesthesia and Intensive Care, 2015

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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."