Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.G369D
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RYR1

NM_000540.3:p.G369D

Associated Papers

Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China.

Chen T et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015

Calcium channelopathies.

Lorenzon NM et al.

Kidney International, 2000

Disease causing mutations of calcium channels.

Lorenzon NM et al.

Channels (austin, Tex.), 0

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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."