Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.A4856V
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RYR1

NM_000540.3:p.A4856V

Associated Papers

Progression or Not - A Small Natural History Study of Genetical Confirmed Congenital Myopathies.

Werlauff U et al.

Journal of Neuromuscular Diseases, 2021

Contractile properties are impaired in congenital myopathies.

Eisum AV et al.

Neuromuscular Disorders : Nmd, 2020

Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark.

Witting N et al.

Neurology. Genetics, 2017

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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."