Varaico: Literature-Extracted Genetic Variants

Gene:RYR3
Variant:p.L790L
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RYR3

NM_001036.6:p.L790L

Associated Papers

Mutations to Gly2370, Gly2373 or Gly2375 in malignant hyperthermia domain 2 decrease caffeine and cresol sensitivity of the rabbit skeletal-muscle Ca2+-release channel (ryanodine receptor isoform 1).

Du GG et al.

The Biochemical Journal, 2001

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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."