Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.S2300P
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RYR1

NM_000540.3:p.S2300P

Associated Papers

Gene Panel Sequencing Identifies a Novel RYR1 p.Ser2300Pro Variant as Candidate for Malignant Hyperthermia with Multi-Minicore Myopathy.

Moon YJ et al.

Genes, 2022

A case report of malignant hyperthermia in a patient with myotonic dystrophy type I: A CARE-compliant article.

Yoo SW et al.

Medicine, 2021

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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."