Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.K2360_P2361insFs
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RYR1

NM_000540.3:p.K2360_P2361insFs

Associated Papers

Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.

Fusto A et al.

Acta Neuropathologica Communications, 2022

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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."