Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.R2140Q
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RYR1

NM_000540.3:p.R2140Q

Associated Papers

Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.

van den Bersselaar LR et al.

Journal of Neuromuscular Diseases, 2023

Neuromuscular symptoms in patients with RYR1-related malignant hyperthermia and rhabdomyolysis.

van den Bersselaar LR et al.

Brain Communications, 2022

Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.

Fridriksdottir R et al.

European Journal of Human Genetics : Ejhg, 2021

34462577 (PubMed )
Supplement: 41431_2021_954_MOESM1_ESM.xlsx › RYR1_MAF_0.1_
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