Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.T4920_I4926ins2
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RYR1

NM_000540.3:p.T4920_I4926ins2

Associated Papers

Rare Duplication in the RYR1 Gene Causing Malignant Hyperthermia and Clinical Variability.

Souza BW et al.

Genes, 2025

Novel pathogenic variants and genes for myopathies identified by whole exome sequencing.

Hunter JM et al.

Molecular Genetics & Genomic Medicine, 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."