Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.I559insFs
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RYR1

NM_000540.3:p.I559insFs

Associated Papers

Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List.

Huang Y et al.

Journal of Personalized Medicine, 2022

36143288 (PubMed )
Supplement: jpm-12-01503-s001.zip › jpm-1809294-supplementary.xlsx › KP_

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

Chang X et al.

Frontiers in Neurology, 2022

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.

Tian X et al.

Neurology. Genetics, 2015

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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."