Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.G4907S
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RYR1

NM_000540.3:p.G4907S

Associated Papers

Correlation of Phenotype-Genotype and Protein Structure in RYR1-Related Myopathy.

Chang X et al.

Frontiers in Neurology, 2022

[Hot spot mutation screening of RYR1 gene in diagnosis of congenital myopathies].

Chang XZ et al.

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2014

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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."