Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.L2066P
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RYR1

NM_000540.3:p.L2066P

Associated Papers

Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1-Related Myopathy.

Janßen S et al.

International Journal of Molecular Sciences, 2024

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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."