Varaico: Literature-Extracted Genetic Variants

Gene:RYR3
Variant:p.N2283H
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RYR3

NM_001036.6:p.N2283H

Associated Papers

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.

Zhou H et al.

Brain : a Journal of Neurology, 2007

Functional effects of mutations identified in patients with multiminicore disease.

Zorzato F et al.

Iubmb Life, 2007

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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."