Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.R1606H
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RYR1

NM_000540.3:p.R1606H

Associated Papers

Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI.

Lawal TA et al.

Journal of Neuromuscular Diseases, 2021

Correlation of phenotype with genotype and protein structure in RYR1-related disorders.

Todd JJ et al.

Journal of Neurology, 2018

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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."