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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RYR1

Variant:p.L21insFs

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RYR1

NM_000540.3:p.L21insFs

hg38:chr19:38440758 T>TC

Associated Papers

RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.

Samões R et al.

Journal of Neuromuscular Diseases, 2017

28269792 (PubMed )

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