Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.C2436_A2437delFs
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RYR1

NM_000540.3:p.C2436_A2437delFs

Associated Papers

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

Werlauff U et al.

Journal of Neuromuscular Diseases, 2021

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

Witting N et al.

Neurology. Genetics, 2017

Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years.

Werlauff U et al.

Journal of Neuromuscular Diseases, 2015

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