Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.S343*
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RYR1

NM_000540.3:p.S343*

Associated Papers

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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